Chromosome Inversion
Chromosomes
Chromosome Mapping
Evolution, Molecular
Encyclopedias as Topic
Reconstructive Surgical Procedures
Biological Evolution
Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (1/1042)
A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high. (+info)Modification of non-conservative double-strand break (DSB) rejoining activity after the induction of cisplatin resistance in human tumour cells. (2/1042)
The induction of collateral radioresistance after the development of cisplatin resistance is a well-documented phenomenon; however, the exact processes that are responsible for the cisplatin-induced radioresistance remain to be elucidated. There was no obvious difference in the level of radiation-induced DNA double strand breaks (DSBs), in DSB rejoining rates, or the level of the catalytic subunit of the DNA-dependent protein kinase (DNA-PKcs) in the cisplatin- and radiation-sensitive 2780/WT and cisplatin-resistant 2780/CP cell lines. However, there was a significantly (P < 0.01) lower level of DSB misrejoining activity within nuclear protein extracts derived from the cisplatin- and radiation-sensitive 2780/WT and OAW42/WT tumour cell lines than in similar extracts from their cisplatin- (and radiation-) resistant 2780/CP and OAW42/CP counterparts. All of the DSB misrejoining events involved deletions of between 134 and 444 bp that arose through illegitimate recombination at short repetitive sequences, such as those that arise through non-homologous repair (NHR). These data further support the notion that the radiosensitivity of DSB repair proficient human tumour cell lines may be partly determined by the predisposition of these cell lines to activate non-conservative DSB rejoining pathways. Furthermore, our data suggest that the induction of acquired cisplatin resistance is associated with a two- to threefold decrease in the activity of a non-conservative DSB rejoining mechanism that appears to be a manifestation of NHR. (+info)Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes. (3/1042)
The TCL1 oncogene on human chromosome 14q32.1 is involved in the development of T cell leukemia in humans. Its expression in these leukemias is activated by chromosomal translocations and inversions at 14q32.1. Here we report the isolation and characterization of a new member of the TCL1 gene family, TCL1b, located approximately 16 kb centromeric of TCL1. The 1.2-kb TCL1b cDNA encodes a 14-kDa protein of 128 aa and shows 60% similarity to Tcl1. Expression profiles of TCL1 and TCL1b genes are very similar: both genes are expressed at very low levels in normal bone marrow and peripheral lymphocytes but are activated in T cell leukemia by rearrangements of the 14q32.1 region. Thus, translocations and inversions at 14q32. 1 in T cell malignancies involve two oncogenes. (+info)Multiple DNA binding activities of the novel site-specific recombinase, Piv, from Moraxella lacunata. (4/1042)
The recombinase, Piv, is essential for site-specific DNA inversion of the type IV pilin DNA segment in Moraxella lacunata and Moraxella bovis. Piv shows significant homology with the transposases of the IS110/IS492 family of insertion elements, but, surprisingly, Piv contains none of the conserved amino acid motifs of the lambda Int or Hin/Res families of site-specific recombinases. Therefore, Piv may mediate site-specific recombination by a novel mechanism. To begin to determine how Piv may assemble a synaptic nucleoprotein structure for DNA cleavage and strand exchange, we have characterized the interaction of Piv with the DNA inversion region of M. lacunata. Gel shift and nuclease/chemical protection assays, competition and dissociation rate analyses, and cooperativity studies indicate that Piv binds two distinct recognition sequences. One recognition sequence, found at multiple sites within and outside of the invertible segment, is bound by Piv protomers with high affinity. The second recognition sequence is located at the recombination cross-over sites at the ends of the invertible element; Piv interacts with this sequence as an oligomer with apparent low affinity. A model is proposed for the role of the different Piv binding sites of the M. lacunata inversion region in the formation of an active synaptosome. (+info)The frequency and allelism of lethal chromosomes in isolated desert populations of Drosophila pseudoobscura. (5/1042)
Second-chromosome lethals were extracted from four populations of Drosophila pseudoobscura in Southern California. Two of the populations were from desert oases and two from the classic habitat on Mt. San Jacinto, previously studied by Dobzhansky. Allelism tests were made on the lethals within and between all locations. The frequency of lethal second-chromosomes in each location was 0.18, and this was not different from the results of other workers for samples throughout the species range. Interpopulational allelism rates were about 0.005, and not different from earlier results of Dobzhansky. Intrapopulational rates in this study were, with one exception, the same as the interpopulational rates, and significantly lower than Dobzhansky found using the third chromosome. This may be due to lethals being linked with heterotic third-chromosome inversions. The allelism rate of the exceptional population (about 0.03 and equal to Dobzhansky's intrapopulational results) may be due to heterotic lethals, or a founder effect. Two lethals were found in three populations each, possibly due to migration among these populations, which are up to 334 km apart. (+info)Gene differences between third-chromosome inversions of Drosophila pseudobscura. (6/1042)
Associations of alleles of the acid phosphatase-3 locus with the different third-chromosome inversions from different populations of D. pseudoobscura are described. We observe only the allele AP-3(1.0) in the Standard and Arrowhead inversions and the allele AP-3.98 in the Santa Cruz, Treeline, Cuernavaca and the Pikes Peak arrangements. The Chiricahua gene arrangement is polymorphic. (+info)A 189-bp repeat region within the human cytomegalovirus replication origin contains a sequence dispensable but irreplaceable with other sequences. (7/1042)
The human cytomegalovirus (HCMV) replication origin exhibits a strain-dependent difference in the number of copies of a 189-bp region: the AD169 and Towne strains contain one and three copies of the region, respectively. A nearly complete deletion of the 189-bp repeat region of the Towne strain does not eliminate the origin's ability to initiate DNA synthesis. Here we report that the replication ability of the HCMV replication origin in infected cells disappeared after replacements of an internal sequence (152 bp) of the 189-bp repeat region with lambda DNA of identical and different lengths as well as after introduction of multiple nucleotide substitutions within the 152-bp internal sequence of the 189-bp repeat. In contrast, a variation in the copy number of 189-bp region (either one or two copies) or an inversion of the 152-bp internal sequence of the 189-bp repeat maintained replication abilities similar to those of the wild-type origin of the Towne strain. These results indicate that the 189-bp repeat region within the HCMV replication origin is not just a dispensable spacer sequence but instead contains an irreplaceable sequence that may play a supporting role in HCMV DNA replication. (+info)Selective sweep at the Drosophila melanogaster Suppressor of Hairless locus and its association with the In(2L)t inversion polymorphism. (8/1042)
The hitchhiking model of population genetics predicts that an allele favored by Darwinian selection can replace haplotypes from the same locus previously established at a neutral mutation-drift equilibrium. This process, known as "selective sweep," was studied by comparing molecular variation between the polymorphic In(2L)t inversion and the standard chromosome. Sequence variation was recorded at the Suppressor of Hairless (Su[H]) gene in an African population of Drosophila melanogaster. We found 47 nucleotide polymorphisms among 20 sequences of 1.2 kb. Neutrality tests were nonsignificant at the nucleotide level. However, these sites were strongly associated, because 290 out of 741 observed pairwise combinations between them were in significant linkage disequilibrium. We found only seven haplotypes, two occurring in the 9 In(2L)t chromosomes, and five in the 11 standard chromosomes, with no shared haplotype. Two haplotypes, one in each chromosome arrangement, made up two-thirds of the sample. This low haplotype diversity departed from neutrality in a haplotype test. This pattern supports a selective sweep hypothesis for the Su(H) chromosome region. (+info)A chromosome inversion is a genetic rearrangement where a segment of a chromosome has been reversed end to end, resulting in a portion of the chromosome that is inverted relative to the original arrangement.
A chromosome inversion is a genetic rearrangement where a segment of a chromosome has been reversed end to end, so that its order of genes is opposite to the original. This means that the gene sequence on the segment of the chromosome has been inverted.
In an inversion, the chromosome breaks in two places, and the segment between the breaks rotates 180 degrees before reattaching. This results in a portion of the chromosome being inverted, or turned upside down, relative to the rest of the chromosome.
Chromosome inversions can be either paracentric or pericentric. Paracentric inversions involve a segment that does not include the centromere (the central constriction point of the chromosome), while pericentric inversions involve a segment that includes the centromere.
Inversions can have various effects on an individual's phenotype, depending on whether the inversion involves genes and if so, how those genes are affected by the inversion. In some cases, inversions may have no noticeable effect, while in others they may cause genetic disorders or predispose an individual to certain health conditions.
'Chromosomes' are thread-like structures found in the nucleus of cells, composed of DNA and proteins, which contain the genetic material responsible for inheritance and cellular function.
Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.
Chromosome mapping, also known as chromosome walking or jumping, is a genetic methodology used to identify the location and order of specific genes or markers within a chromosome by sequentially moving from a known starting point to an unknown target region.
Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.
Phylogeny is the scientific study and hypothesis construction of evolutionary relationships among groups or species of organisms, often represented in a branching diagram called a phylogenetic tree.
Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.
Molecular evolution is the process of change over time in the nucleotide sequences and organization of genes within a population of organisms, primarily involving point mutations, gene duplications, recombinations, and horizontal gene transfer.
Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.
"Encyclopedias, as a medical topic, refer to comprehensive and organized collections of information on various medical disciplines, theories, practices, diseases, treatments, and related health sciences, serving as extensive reference sources for medical professionals, students, researchers, and general public." (29 words)
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
'Reconstructive surgical procedures' are surgical interventions designed to correct or improve function and/or appearance of body parts that are defective or damaged due to congenital abnormalities, trauma, infection, disease, or tumors.
Reconstructive surgical procedures are a type of surgery aimed at restoring the form and function of body parts that are defective or damaged due to various reasons such as congenital abnormalities, trauma, infection, tumors, or disease. These procedures can involve the transfer of tissue from one part of the body to another, manipulation of bones, muscles, and tendons, or use of prosthetic materials to reconstruct the affected area. The goal is to improve both the physical appearance and functionality of the body part, thereby enhancing the patient's quality of life. Examples include breast reconstruction after mastectomy, cleft lip and palate repair, and treatment of severe burns.
"Biological evolution is the gradual process of change and diversity in successive generations of inherited traits of organisms, driven by natural selection, genetic drift, gene flow, and mutation, occurring over long periods of time."
Biological evolution is the change in the genetic composition of populations of organisms over time, from one generation to the next. It is a process that results in descendants differing genetically from their ancestors. Biological evolution can be driven by several mechanisms, including natural selection, genetic drift, gene flow, and mutation. These processes can lead to changes in the frequency of alleles (variants of a gene) within populations, resulting in the development of new species and the extinction of others over long periods of time. Biological evolution provides a unifying explanation for the diversity of life on Earth and is supported by extensive evidence from many different fields of science, including genetics, paleontology, comparative anatomy, and biogeography.
'Mental recall', in a medical context, refers to the ability of an individual to retrieve and bring forth information from their memory storage, such as facts, events, or experiences, into their conscious awareness.
"Mental recall," also known as "memory recall," refers to the ability to retrieve or bring information from your memory storage into your conscious mind, so you can think about, use, or apply it. This process involves accessing and retrieving stored memories in response to certain cues or prompts. It is a fundamental cognitive function that allows individuals to remember and recognize people, places, events, facts, and experiences.
In the context of medical terminology, mental recall may be used to assess an individual's cognitive abilities, particularly in relation to memory function. Impairments in memory recall can be indicative of various neurological or psychological conditions, such as dementia, Alzheimer's disease, or amnesia.
In the context of medicine, an algorithm refers to a step-by-step procedure or set of rules that healthcare professionals use to diagnose and manage specific medical conditions, often presented in a flowchart format for easy understanding and implementation.
An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.
For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.
Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.
Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.
Ancestral reconstruction
Watterson GA, Ewens WJ, Hall TE, Morgan A (1982). "The chromosome inversion problem". Journal of Theoretical Biology. 99 (1): 1 ... Sturtevant AH, Dobzhansky T (July 1936). "Inversions in the Third Chromosome of Wild Races of Drosophila Pseudoobscura, and ... Dobzhansky T, Sturtevant AH (January 1938). "Inversions in the Chromosomes of Drosophila Pseudoobscura". Genetics. 23 (1): 28- ... Various operations are allowed on these permutations, such as an inversion (a segment of the permutation is reversed in-place ...
Chromosomal inversion
When an inversion carrying chromosome is paired with a non-inverted homologous chromosome (Inversion heterozygotes) during ... Inversions have been essential to sex chromosome evolution. In mammals, the Y chromosome is unable to recombine with the X ... An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An ... His height is caused by an inversion of chromosome 12. An example of chromosomal Inversion in organisms is demonstrated in the ...
Mark Kirkpatrick
Kirkpatrick, M.; Barton, N. H. (2006). "Chromosome inversions, local adaptation and speciation". Genetics. 173 (1): 419-434. ... His research touches on a wide variety of topics, including the evolution of sex chromosomes, sexual selection, and speciation ... He has also been actively involved in research on sex chromosome evolution and sex determination. Awards received include: ... Kirkpatrick has worked on questions in quantitative genetics, speciation, and chromosome evolution, focusing on the evolution ...
Phylogenetic reconciliation
Dobzhansky, T.; Sturtevant, A. H. (1938). "Inversions in the Chromosomes of Drosophila Pseudoobscura". Genetics. 23 (1): 28-64 ... Similarly, the DL framework can be enriched with duplication and loss of chromosome segments instead of a single gene. However ... chromosomes, proteins, protein domains, and can also be helpful to understand the evolution of human culture elements such as ... including for instance chromosome levels events inside genomes such as whole genome duplication. Phylogenies have been used for ...
Drosophila pseudoobscura
Differs from AR only by a third chromosome inversion. Arrowhead or AR. Differs from CH only by an inversion on the third ... In the D. pseudoobscura population, some males have a harmful chromosome called sex ratio (SR), where an inactive Y-chromosome ... chromosome. "Drosophila pseudoobscura". Integrated Taxonomic Information System. S. Richards, Y. Liu, et al. (2005). " ...
Structural variation in the human genome
These repeated sequences could cause deletions, duplications, inversions, and inverted duplication chromosomes. The products of ... The inversion breakpoint was found to be around a segmental duplication which is observed in many other inversion events. It is ... At this scale, the only observations made were differences in chromosome number and chromosome structure. These variants that ... An inversion is a section of DNA on a chromosome that is reversed in its orientation in comparison to the reference genome. ...
Koolen-De Vries syndrome
The orientation of low copy repeats flanking the deleted segment suggests the inversion in the parental chromosome influences ... "A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism". Nat Genet. 38 (9): 999-1001 ... A review of five patients found the parental chromosome from which the deletion originated carried a common 900kb inversion ... Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA (2010). "Recurrent inversion events at 17q21.31 microdeletion locus are linked ...
Acute myelomonocytic leukemia
AML with a translocation or inversion is seen in different chromosomes. Specifically, AML with inversion in chromosome 16 also ... a gene inactivation or activation has occurred due to chromosome translocations or inversion. AML-M4 with an inversion of ... chromosome 16 is caused by breakage and rearrangement within itself. Criteria for AMML is confirmed if the myeloblasts and ...
Chromosomal polymorphism
Possessing chromosomes of varying shapes is generally the result of a chromosomal translocation or chromosomal inversion. In a ... In some cases of differing counts, the difference in chromosome counts is the result of a single chromosome undergoing fission ... In an inversion, a segment of a chromosome is flipped end-for-end. All forms of chromosomal polymorphism can be viewed as a ... where it splits into two smaller chromosomes, or two undergoing fusion, where two chromosomes join to form one. This condition ...
Benign familial neonatal seizures
This occurs on chromosome 5 and the inversion is of the p15 through q11 area. Affected individuals, thus, have the karyotype 46 ... "Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions". J Med Genet. 39 (3): 214-6. doi: ... The rarest cause of BFNE, occurring in only one known family, is a chromosomal inversion. ... and the third being a chromosomal inversion (BFNC3). There is no obvious correlation between most of the known mutations and ...
Fraser syndrome
An earlier born infant had Fraser syndrome and the same chromosome 9 inversion.[citation needed] Van Haelst et al. (2007) ... 2003) located the Fraser syndrome locus to chromosome 4q21. In 6 of 18 consanguineous families with Fraser syndrome, van Haelst ... Both the female fetus and the phenotypically normal father had a chromosome anomaly: inv(9)(p11q21). ...
Oligoryzomys nigripes
de Almeida, Eunice Judith Cardoso; Yonenaga-Yassuda, Yatiyo (January 1991). "Pericentric inversions and sex chromosome ... There are 60 autosomal chromosomes and 2 sex chromosomes found in this species. Weksler et al., 2008 Musser, G.G.; Carleton, M. ... There are 31 pairs of chromosomes found in the Oligoryzomys nigripes species. The diploid formula for this species is 2n=62. ...
Sabino horse
Brooks, S. A.; Lear, T. L.; Adelson, D. L.; Bailey, E. (2007). "A chromosome inversion near the KIT gene and the Tobiano ... The simple dominant allele responsible for the tobiano pattern (TO) is a large inversion approximately 100kb downstream of KIT ...
Chromosome engineering
Genetics Chromosome Chromosomal deletion Chromosomal inversion Chromosomal translocation DNA Disease "Chromosome engineering". ... Chromosome engineering is "the controlled generation of chromosomal deletions, inversions, or translocations with defined ... In an experiment pertaining to chromosome engineering that was conducted in 2006, it was found that chromosome engineering can ... After much experimenting, it was found that manipulating chromosomes, or chromosome engineering, is an excellent and efficient ...
Acute basophilic leukemia
Liu, P.P.; A. Hajara; C. Wijmengac; F.S. Collins (1995). "Molecular pathogenesis of chromosome 16 inversion in the M4E0 ... Cytogenetically heterogeneous but frequently associated with Philadelphia chromosome. There is no clinically distinguishing ...
CBFB
It is most commonly caused by an inversion of particular region of chromosome 16; however it can also be caused by ... In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N ... O'Reilly J, Chipper L, Springall F, Herrmann R (2000). "A unique structural abnormality of chromosome 16 resulting in a CBF ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Oncogenes, All stub ...
Dicentric chromosome
Most dicentric chromosomes are known to form through chromosomal inversions, which are rotations in regions of a chromosome due ... During prophase of meiosis I, homologous chromosomes form an inversion loop and crossover occurs. If a paracentric inversion ... A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome ... a trisomy of chromosome 18, and Turner syndrome, a loss (or partial loss) of the X chromosome. Pseudodicentric chromosomes ...
Equine coat color genetics
Brooks; Lear; Adelson; Bailey (2007). "A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses". ... For the most part, chromosomes come in pairs, one chromosome from each parent. When both chromosomes have the same allele for a ... DNA is organized into storage structures called chromosomes. A chromosome is simply a very long piece of DNA, and a gene is a ... The Dun locus is TBX3 on equine chromosome 8. The molecular cause behind the dun coat colors is not entirely understood, but ...
Dominant white
Brooks; Lear; Adelson; Bailey (2007). "A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses". ... At the time there was no means of assigning W to a position on the chromosome, or to a gene. This family of white horses ... A locus is the physical location of a gene on a chromosome. For any particular gene, when an individual inherits two identical ... Tobiano is caused by an inversion starting about 100 kb downstream of KIT, and is also considered an allele of KIT. These ...
Alternative mating strategy
The variation in plumage colours are determined by an inversion mutation on chromosome 2. This is an example of alternative ...
Rabicano
brooks, SA; TL Lear; DL Adelson; E Bailey (2007). "A chromosome inversion near the KIT gene and the Tobiano spotting pattern in ...
Eukaryote hybrid genome
Hooper DM, Griffith SC, Price TD (March 2019). "Sex chromosome inversions enforce reproductive isolation across an avian hybrid ... mitonuclear loci residing on the Z chromosome in hybrid Italian sparrows is consistent with compatible sex chromosomes being ... A closely related observation is the large X effect stating that there is a disproportionate contribution of the X/Z-chromosome ... There are two main variants of hybrid species genomes: allopolyploid, which have one full chromosome set from each parent ...
Michelin tire baby syndrome
A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q". J Am Acad ...
AI-10-49
The pericentric chromosome inversion inv(16)(p13q22) creates the CBFB-MYH11 fusion gene, which encodes the CBFβ-SMMHC fusion ... "Association of an inversion of chromosome 16 with abnormal marrow eosinophils in acute myelomonocytic leukemia. A unique ... including groups with the chromosome rearrangements inv(16)(p13q22) and t(8;21)(q22;q22). The chromosome translocation t(8;21)( ... The chromosome translocation t(12;21) (p13.1;q22) causes the fusion of the ETS variant 6 (ETV6) and RUNX1 genes results in ETV6 ...
Emerin
Approximately 20% of cases have X chromosomes with an inversion within the Xq28 region. Moreover, recent research have found ... Small K, Warren ST (Jan 1998). "Emerin deletions occurring on both Xq28 inversion backgrounds". Human Molecular Genetics. 7 (1 ... "Transcriptional organization of a 450-kb region of the human X chromosome in Xq28". Proc. Natl. Acad. Sci. U.S.A. 90 (23): ... Genes on human chromosome X, Molecular biology). ...
Roan (horse)
Haase, B; Jude R; Brooks SA; Leeb T (June 2008). "An equine chromosome 3 inversion is associated with the tobiano spotting ... The region of the chromosome that harbors the roan gene is homologous to parts of chromosomes in other species that also ... While a chromosomal inversion of KIT causes tobiano white spotting, KIT also harbors one or more alleles responsible for sabino ... Paired chromosomes exchange parallel pieces of DNA, a process called chromosomal crossover, prior to being passed on to the ...
T-cell prolymphocytic leukemia
The most frequent chromosomal abnormality is the inversion of chromosome 14, specifically inv 14(q11;q32). This is found in 80 ... Brito-Babapulle V, Catovsky D (1991). "Inversions and tandem translocations involving chromosome 14q11 and 14q32 in T- ... Maljaei SH, Brito-Babapulle V, Hiorns LR, Catovsky D (1998). "Abnormalities of chromosomes 8, 11, 14, and X in T-prolymphocytic ... abnormalities of chromosome 8 are seen approximately 75% of patients, including idic (8p11), t(8;8)(p11-12;q12), and trisomy 8 ...
TMEM200A
"Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18". Psychiatric Genetics ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 6, Genes, Human proteins ... All stub articles, Human chromosome 6 gene stubs). ...
Biopsychiatry controversy
"Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18". Psychiatric Genetics ... "A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42". Molecular Psychiatry. 9 ...
Erythranthe
The perennials and annuals differ as groups from each other by an inversion sequence on chromosome 8. Evidence tentatively ...
WikiGenes - Chromosome Inversion
Pericentric inversion in human chromosome 1 and the risk for male sterility. | Journal of Medical Genetics
A pericentric inversion in chromosome 1 of a severely oligospermic human male is reported. Pachytene analysis in microspread ... Pericentric inversion in human chromosome 1 and the risk for male sterility. ... Pericentric inversion in human chromosome 1 and the risk for male sterility. ... Males heterozygous for a pericentric inversion in chromosome 1 appear to be at severe risk for infertility brought about by ...
Video • Chromosome Inversion
Chromosome Inversion. Assistente gratuito on-line per diagnosi medica. Graduatoria di possibili malattie da uno o più sintomi ... Chromosome Inversion. Chromosome Inversion Worksheet - YouTube. This shows how to draw chromosomes at prophase I when one of ... What Is The Definition Of Chromosome inversion .... Visit our website for text version of this Definition and app download. ... What Is The Definition Of Chromosome inversion .... Visit our website for text version of this Definition and app download. ...
Association between pericentric inversion in chromosome 9 and congenital heart defects - uomeprints
Association between pericentric inversion in chromosome 9 and congenital heart defects. International Journal of Human Genetics ... we report two different cases of pericentric inversion of chromosome 9 inv(9)(p11-q13), associated with Total Anomalous ... We predict here that, the genes responsible for the normal heart development could be present on chromosome 9 around p11-q13 ... To our knowledge, this is the maiden report of association of inversion with CHD from South India. ...
Ancestral reconstruction - Wikipedia
Watterson GA, Ewens WJ, Hall TE, Morgan A (1982). "The chromosome inversion problem". Journal of Theoretical Biology. 99 (1): 1 ... Sturtevant AH, Dobzhansky T (July 1936). "Inversions in the Third Chromosome of Wild Races of Drosophila Pseudoobscura, and ... Dobzhansky T, Sturtevant AH (January 1938). "Inversions in the Chromosomes of Drosophila Pseudoobscura". Genetics. 23 (1): 28- ... Various operations are allowed on these permutations, such as an inversion (a segment of the permutation is reversed in-place ...
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the...
Keywords: Animals, Base Composition, Cell Line, Centromere, Chromosome Breakage, Chromosome Inversion, Chromosomes, Chromosomes ... Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the ... The breakpoints of the inversion that distinguishes human chromosome 4 (HSA4) from its chimpanzee counterpart were identified ... To investigate whether the genomic architecture might have facilitated the inversion, comparative sequence analysis was used to ...
Inversion of chromosome 7q22 and q36 as a sole abnormality presenting in myelodysplastic syndrome: a case report | Journal of...
We report a patient with myelodysplastic syndrome whose marrow cells carried an inversion of 7q22 and q36 as a sole karyotypic ... Despite the extremely low frequency, inversion of 7q22 appears to play a crucial role for myelodysplastic syndrome in this ... Deletions of chromosome 7 are often detected in myelodysplastic syndrome. The most commonly deleted segments are clustered at ... Inversion of chromosome 7q22 and q36 as a sole abnormality presenting in myelodysplastic syndrome: a case report. *Hiroto ...
Koolen-de Vries syndrome: MedlinePlus Genetics
An inversion involves two breaks in a chromosome; the resulting piece of DNA is reversed and reinserted into the chromosome. ... A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006 Sep;38(9):999 ... So while the inversion is very common, only an extremely small percentage of parents with the inversion have a child affected ... Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The protein produced from the KANSL1 gene is ...
Ancient homomorphy of molluscan sex chromosomes sustained by reversible sex-biased genes and sex determiner translocation |...
Analysis of genomes in a phylogenetic context reveals a 350-million-year-old homomorphic sex chromosome in molluscs, probably ... The evolutionary dynamics of sex chromosomes suggest a mechanism for inheritance turnover of sex-determining genes that is ... The long-term undifferentiation of molluscan sex chromosomes is potentially sustained by the unexpected intertwined regulation ... homomorphy is prevalent in the animal kingdom but it is unclear how ancient homomorphic sex chromosomes avoid chromosome-scale ...
Frontiers | Conserved and Divergent Aspects of Plasticity and Sexual Dimorphism in Wing Size and Shape in Three Diptera
The first long-read nuclear genome assembly of Oryza australiensis, a wild rice from northern Australia | Scientific Reports
Recently, Stein et al.1 showed an inversion on chromosome two of non-AA rice genomes relative to AA genome rice. This inversion ... 1 showed an inversion on chromosome two of non-AA rice genomes relative to AA genome rice. The same inversion appears in ... 2). We verified the inversion reported by Stein et al.1 and the lack of inversion in the O. australiensis KR assembly by ... punctata Chr2 we again observed an inversion at these coordinates, but no inversion when O. punctata-guided O. australiensis ...
Sturge-Weber Syndrome: Practice Essentials, Background, Pathophysiology
Inversion of chromosome arm 4q and trisomy 10 were seen in one patient each. Shirley et al identified a somatic activating c. ... 27] on chromosome 9 (at 9q21.2), appears to cause alterations in regulation of the structure and function of blood vessels, ... 548G-,A mutation in GNAQ (on chromosome 9q21) in samples of affected tissues, in 23 out of 26 study participants with SWS. [27 ...
Acute myelomonocytic leukaemia +eosinophilia | Wellcome Collection
'I knew something was wrong. No matter what is happening with his chromosomes, the love these two have for each other is...
beautiful, best friends, children, chromosome 7 inversion, chromosomes, cleft lip, cleft palate, family, field, happy, ... Son diagnosed with chromosome 7 inversion. I knew something was wrong. No matter what is happening with his chromosomes, the ... We did genetic testing on Kai when he was a few months old, but they said it was still just a chromosome 7 inversion. Nothing ... It turned out that what was wrong is that they had detected a chromosome 7 inversion. Obviously at first I had no idea what ...
POPULATION STRUCTURE OF THE MALARIA VECTOR ANOPHELES DARLINGI IN A MALARIA-ENDEMIC REGION OF EASTERN AMAZONIAN BRAZIL in: The...
Inversion polymorphism in the salivary gland chromosomes of Anopheles darlingi Root. Mosq News 32 :555-565. ... Inversion polymorphism in the salivary gland chromosomes of Anopheles darlingi Root. Mosq News 32 :555-565. ... Inversion polymorphism in the salivary gland chromosomes of Anopheles darlingi. Root. Mosq News 32. :. 555. -565.. ), false ... Inversion polymorphism in the salivary gland chromosomes of Anopheles darlingi. Root. Mosq News 32. :. 555. -565.. ), false ...
Hybridization and a mixture of small and large-effect loci facilitate adaptive radiation | bioRxiv
Kirkpatrick, M. & Barton, N. Chromosome inversions, local adaptation and speciation. Genetics 173, 419-434 (2006).. ... De-Kayne, R., Zoller, S. & Feulner, P. G. D. A de novo chromosome-level genome assembly of Coregonus sp. Balchen One ... WFS12 and WFS10 are homeologous chromosomes 48, supporting the idea that genomic redundancy, in this case across homeologous ... We also identified genes that were annotated on chromosome-scale scaffolds in the whitefish reference genome 48 which ...
Karl Broman - Google Scholar
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. S Giglio, KW Broman, N ... Quantitative trait loci on chromosomes 3 and 17 influence phenotypes of the metabolic syndrome. AH Kissebah, GE Sonnenberg, J ... Perturbation of nuclear architecture by long-distance chromosome interactions. AF Dernburg, KW Broman, JC Fung, WF Marshall, J ...
Cancer Genes | CancerQuest
New protein created by fusion of transcription factors via an inversion in chromosome 16.. Acute myeloid leukemia. 49 ... The movement of a gene or group of genes to a different location within the same chromosome or to a different chromosome often ... 84 a b c d Gustave Roussy, Cytogenomics of cancers: From chromosome to sequence, Molecular Oncology, Volume 4, Issue 4, August ... Inactivation of the APC gene, located on chromosome 5, is thought to lead to increased cell proliferation and contribute to the ...
Drosera Chromosomes | ICPS
They are missing chromosome segments including centromeres and have sequence inversions. One of these species, Arabidopsis ... In spite of our lack of attention to chromosomes and chromosome numbers in formally defining species, it is the chromosomes and ... Having the presence of extra chromosomes or missing chromosomes. Any deviation from the expected number of chromosomes. This ... duplicated chromosomes). In the smaller holocentric chromosomes, and in fact most Drosera chromosomes, with the best light ...
Flatt Group | Department of Biology | University of Fribourg
Starting with Dobzhanskys pioneering work, dozens of polymorphic chromosome inversions have been found that show signatures of ... Chromosomal inversions are well known to suppress recombination. This fact, and the observation that many inversions form ... How do inversions affect adaptation? "Legend has it that, when asked why he robbed banks, Willie Sutton replied, "Because ... However, although inversions are often considered to play a significant role in adaptation, the genic targets of selection ...
Speciation: Concepts and Viral Roles
Others include inversions and translocations in the chromosomes which result in rearrangement of genes and thus mutations. If ... The nuclei of polyploid hybrids contain a complete set of chromosome from each of the parents. Keep in mind also that most ... exerting largely the same effects in males and females at the same time and at the same point on the chromosome, and do so to ... exerting largely the same effects in males and females at the same time and at the same point on the chromosome, and do so to ...
Simone Rost - Search Results - PubMed
Genome alignment with graph data structures: a comparison | BMC Bioinformatics | Full Text
We show that crucial pieces of alignment information, associated with inversions and duplications, are not visible in the ... Kececioglu JD, Sankoff D: Efficient bounds for oriented chromosome inversion distance. Proceedings of the 5th Annual Symposium ... The structure of alignment graphs and A-Bruijn graphs does not display inversions. Let B. ¯. denote the reverse complemented ... The classification of cycles into whirls and bulges depends on the orientation of genomes. In this example, inversion of the ...
Cytogenetic/Chromosome Test | Atrium Health Wake Forest Baptist
This includes: translocations, duplications, deletions, inversions, mosaicism, marker chromosomes and numerical aberrations.. ... Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. Chromosome abnormalities constitute ... TEST: PRENATAL FETAL BLOOD/PUBS CHROMOSOME ANALYSIS Purpose of Test: To identify chromosome abnormalities that can be detected ... TEST: PRENATAL CHORIONIC VILLUS SAMPLING CHROMOSOME ANALYSIS. Purpose of Test: To identify chromosome abnormalities that can be ...
Comprehensive Genomic Profiling of Pancreatic Acinar Cell Carcinomas Identifies Recurrent RAF Fusions and Frequent Inactivation...
1B). Finally, a chromosome 3 inversion produced an HACL-RAF1 fusion that harbored an intact RAF1 kinase domain (Fig. 1C). RNA- ... A, SND1-BRAF results from a chromosome 7 inversion encompassing approximately 12.6 Mb that juxtaposes the 5′ end of SND1 with ... A, SND1-BRAF results from a chromosome 7 inversion encompassing approximately 12.6 Mb that juxtaposes the 5′ end of SND1 with ... C, a RAF1 fusion resulting from a chromosome 3 inversion was observed in a single sample. Complementary DNA (cDNA) sequences ...
Dryad | Data -- Individual inversions or their combinations: which is the main selective target in a natural population of...
Thus, it seems that for each pair of homologous chromosomes inversions no deviation from randomness was detected. Finally, no ... For this objective, we have studied the inversion composition of homologous and non-homologous chromosomes from a D. subobscura ... the individual inversions rather than their combinations in different chromosomes are the main target of selection. ... Data from: Individual inversions or their combinations: which is the main selective target in a natural population of ...
Talking Glossary of Genetic Terms | NHGRI
Inversion. An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in ... X Chromosome. The X chromosome is one of the two sex chromosomes that are involved in sex determination. Humans and most other ... Y Chromosome. The Y chromosome is one of the two sex chromosomes that are involved in sex determination. Humans and most other ... Sex Chromosome. A sex chromosome is a type of chromosome involved in sex determination. Humans and most other mammals have two ...
Unit II - Genetics Flashcards by Sarah Axelrath | Brainscape
Pericentric Inversions: Inversions of a region of a chromosome including the centromere; crossover may result in chromosomes ... Inversions of a region of a chromosome excluding the centromere; crossover may generate both dicentric and acentric chromosomes ... Chromosomes whose centromeres are located near the end of the chromosome; stalks and satellites on the short arms contain ... 171 bp repeat unit found near centromeric region of all human chromosomes; likely important for chromosome segregation in ...
KIT gene
Brooks, S.A., Lear, T.L., Adelson, D.L. and Bailey, E., A chromosome inversion near the KIT gene and Tobiano spotting pattern ... KIT has also been identified on the B chromosomes in the fox and raccoon dog. B chromosomes are supernumerary chromosomes, ... The white banded (Wbd)28 and sash (Wsh)29 alleles arose separately by spontaneous mutation involving a large 5 inversion ... KIT resides on the long arm of chromosome 3 in the horse (ECA 3q).16 There are over 15 alleles; 14 of which are associated with ...