• Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • However, a gain of chromosome 12 and translocations involving 12q14-15 have been described. (nih.gov)
  • We examined the intakes of these B vitamins and their food sources in relation to the frequency of chromosome translocations as a biomarker of cumulative DNA damage, in eighty-two male airline pilots. (cambridge.org)
  • Translocations in peripheral blood lymphocytes were scored by using fluorescence in situ hybridisation whole-chromosome painting. (cambridge.org)
  • Increased frequency of chromosome translocations in airline pilots with long-term flying experience. (cdc.gov)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • In order to trace the origins and migratory patterns that may have led to the genetic isolation and autosomal clustering in some of these communities we analyzed Y-chromosome STR and SNP sample data from 6327 individuals, in addition to whole genome autosomal sample data from 609 individuals, from Mount Lebanon and other surrounding communities. (nature.com)
  • Instead of doubling up to protect its genetic cargo like other chromosomes, the lone Y safeguards its genes by having sex with itself, an international consortium has found. (urbandictionary.com)
  • The Y chromosome is a hall of mirrors ,' said Page, whose team has for the first time identified the full genetic sequence of a Y chromosome , from an anonymous donor. (urbandictionary.com)
  • We hope to block methylation of XIST in order to restore gene expression in Rett syndrome and similar genetic diseases in females carried on the X chromosome. (drugdiscoverynews.com)
  • Gene-rich X chromosomes implicate intragenomic conflict in the evolution of bizarre genetic systems. (harvard.edu)
  • Chromosome abnormalities constitute a major category of medical genetic disorders. (wakehealth.edu)
  • Chromosomes are packages of the genetic material located in our cells - the foundation of our basic biology as an organism. (gizmodo.com)
  • Ideally, if you were to create an extra chromosome, rather than putting extra genetic material and inserting it into an existing chromosome - where it might be put into a random spot or put into something else that's going on - you have a very controlled environment," he told io9. (gizmodo.com)
  • RR CC was named for its morphologic resemblance to pediatric malignant rhabdoid tumor (MRT) of the kidney, which is a highly aggressive tumor characterized by cells that resemble rhabdomyoblasts and by genetic alterations involving chromosome 22, particularly the hSNF5/INI1 gene on 22q11.2. (medscape.com)
  • This theory has been confirmed by genetic studies such as analysis of X-chromosome inactivation patterns, which indicated a clonal origin for both the epithelial and sarcomatoid components of CCRCCs with sarcomatoid differentiation. (medscape.com)
  • The dissemination of antibiotic resistance in Aeromonas is predominantly facilitated by chromosome -borne accessory genetic elements , although the existing literature on this subject remains limited. (bvsalud.org)
  • Hence, the primary objective of this study is to comprehensively investigate the genomic characteristics of chromosome -borne accessory genetic elements in Aeromonas . (bvsalud.org)
  • DNA (deoxyribonucleic acid) is the cell's genetic material, contained in chromosomes within the cell nucleus and mitochondria. (msdmanuals.com)
  • A genetic disorder is a medical condition caused by a problem with your genes or chromosomes. (msdmanuals.com)
  • Several different changes involving chromosome 12 have been reported, including an extra piece of the chromosome in each cell (partial trisomy 12), a missing segment of the chromosome in each cell (partial monosomy 12), and a circular structure called a ring chromosome 12. (medlineplus.gov)
  • To identify the likely location of the repressor protein and the gene that codes for it, the researchers started by looking at cells from human embryos with different forms of chromosomal trisomy, a condition in which cells carry three copies of a particular chromosome instead of two. (sciencedaily.com)
  • For example, Down syndrome in humans is marked by a trisomy of chromosome 21. (sciencedaily.com)
  • An extra chromosome 21 leads to trisomy, also known as Down syndrome. (gizmodo.com)
  • Chromosome analysis is essential to exclude trisomy 13, which Meckel-Gruber syndrome mimics. (medscape.com)
  • Clonal acquired chromosome aberrations were found in 13 patients and a constitutional trisomy 18 as the sole change in 1. (lu.se)
  • Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
  • overexpressed in DS due to the extra chromosome. (bvsalud.org)
  • Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
  • 3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
  • 12- 17 However, there is still further allelic heterogeneity within this region as there are additional XLMR families published that map to Xq28 with a significant lod score but do not have abnormalities in any of these genes. (bmj.com)
  • The study of chromosomes and their abnormalities is known as cytogenetics. (wakehealth.edu)
  • To identify chromosome abnormalities detectable by routine cytogenetic analysis. (wakehealth.edu)
  • To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. (wakehealth.edu)
  • Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. (karger.com)
  • These tumors included one highly differentiated liposarcoma with abnormal karyotype but no involvement of 12q13, seven lipomas with various cytogenetic aberrations of 12q13-15, two uterine leiomyomas with t(12;14) (q14-15;q23-24), and one hemangiopericytoma and one chondroma, both of which also had 12q13 changes. (lu.se)
  • PCR-based markers and cytogenetic analysis with genomic in situ hybridisation were applied to identify alien chromatin in four genetically diverse populations of wheat ( Triticum aestivum ) lines incorporating chromosome segments from Thinopyrum intermedium and Secale cereale (rye). (nature.com)
  • and the University of California, Santa Cruz, Genome Browser, to look for genes or genomic regions of chromosomes 1 and 19 thought to produce proteins that interact with Xist. (sciencedaily.com)
  • Comparative genomic hybridisation (CGH) was used to screen 76 vestibular schwannomas from 76 patients (66 sporadic and 10 NF2 related) to identify other chromosome regions that may harbour genes involved in the tumorigenesis. (bmj.com)
  • Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)
  • Certain chromosomes may be put in place to serve as a backup, or to function at a specific stage of a person's life (such as during elderly years when existing genetics isn't up to the task). (gizmodo.com)
  • This reorganization relies on condensin, a protein complex involved in the condensation of chromosomes. (jove.com)
  • Located on the X chromosome itself, Xist produces a protein that spreads up and down the chromosome during female embryonic development, turning off its genes. (sciencedaily.com)
  • The most likely explanation for this phenomenon, Migeon reasons, was that a protein that represses the X chromosome silencing activity of Xist was working overtime, allowing more than one X chromosome to remain activated. (sciencedaily.com)
  • The researchers also found a protein, called DC1, that binds to every methyl group on XIST and enables it suppress the X chromosome. (drugdiscoverynews.com)
  • In 1986, the NF2 gene was mapped to chromosome 22, and in 1993, two groups independently isolated the gene and named its encoding protein merlin or schwannomin. (bmj.com)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Chromosome translocation frequency and intakes of B vitamins, meat, and grain products in airline pilots. (cdc.gov)
  • Antioxidant intake and chromosome translocation frequency among airline pilots. (cdc.gov)
  • Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. (wikipedia.org)
  • Chromosome 9 spans about 150 million base pairs of nucleic acids (the building blocks of DNA ) and represents between 4.0 and 4.5% of the total DNA in cells . (wikipedia.org)
  • Using a cDNA probe that spans the CHOP coding region, we detected one rearranged and one wild type allele in nine of nine MLS with t(12;16). (lu.se)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
  • These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
  • Then, the cell distributes a copy of each chromosome between the two daughter cells so that each daughter cell receives a complete set of chromosomes. (jove.com)
  • Certain cells undergo multiple cycles of chromosome duplication without undergoing any cell division. (jove.com)
  • Such cells, called polyploid cells, contain multiple sets of each chromosome. (jove.com)
  • During the M phase, the duplicated chromosomes are separated and distributed to two genetically identical daughter cells. (jove.com)
  • This causes a few cells in the body to have two complete X chromosomes, and the other cells to have just one copy. (medicinenet.com)
  • If abnormal or missing pieces of one of the X chromosomes occurs, all cells have one complete and one altered copy of the X chromosome. (medicinenet.com)
  • In some cases, a few cells have one copy of the X chromosome while other cells have a copy of the X chromosome as well as some Y chromosome material. (medicinenet.com)
  • All cells in female mammals contain two X chromosomes, but only one is needed for proper cell function and development, Weill Cornell notes. (drugdiscoverynews.com)
  • When they removed DC1 from the cells, XIST was unable to turn off the X chromosome. (drugdiscoverynews.com)
  • We have combined the proteomic analysis of Xenopus laevis in vitro-assembled chromosomes with RNA interference and live cell imaging in HeLa cells to identify novel factors required for proper chromosome segregation. (rupress.org)
  • Both hemophilia A and B are inherited in the same way, because both the genes for factor VIII and factor IX are located on the X chromosome (chromosomes are structures within the body's cells that contain the genes). (cdc.gov)
  • Except for certain cells (for example, sperm and egg cells and red blood cells), the cell nucleus contains 23 pairs of chromosomes. (msdmanuals.com)
  • Cells contain 46 chromosomes arranged in 23 pairs. (msdmanuals.com)
  • Each time the cells split, they had to make exact copies of each of your chromosomes with all their thousands of genes. (msdmanuals.com)
  • To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
  • Most alien wheat lines carry whole chromosome arms, and it is notable that these lines showed intra-arm recombination within the 1BS arm. (nature.com)
  • If we can understand how the normal X chromosome is turned off, we can start to figure out how to turn it back on and get the body to produce those necessary proteins," Jaffrey said. (drugdiscoverynews.com)
  • Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • At this time it also lost the ability to pair up exactly with its partner and to swap faulty genes for good ones, as the other 22 pairs of non-sex chromosomes do. (urbandictionary.com)
  • Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. (medlineplus.gov)
  • Here, hundreds to thousands of copies of each chromosome are generated without any cell division. (jove.com)
  • The mitotic checkpoint plays an important role in preventing chromosome segregation errors and the production of aneuploid progeny. (jci.org)
  • Surprisingly, they find that USP44 prevents chromosome segregation errors through a function independent of its previously identified role in the mitotic checkpoint. (jci.org)
  • Because having two active X chromosomes is lethal very early in development -- before a new embryo even implants into the uterine wall -- Migeon and her colleagues focused on autosomal trisomies. (sciencedaily.com)
  • There are two types: autosomal and sex chromosomes. (gizmodo.com)
  • The following are some of the gene count estimates of human chromosome 12. (wikipedia.org)
  • The following is a partial list of genes on human chromosome 12. (wikipedia.org)
  • These are some of the gene count estimates of human chromosome 9. (wikipedia.org)
  • After nearly 40 years of searching, researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos are formed, effectively allowing for the generally lethal activation of more than one X chromosome during development. (sciencedaily.com)
  • Sex chromosome researchers have long known that the vast majority of human and other mammalian females have two X chromosomes, while the vast majority of males have a single X and a Y, and only one X chromosome is active in females. (sciencedaily.com)
  • Only one section of the human genome fit the bill with these criteria -- a stretch of DNA on the short arm of chromosome 19. (sciencedaily.com)
  • Each cell in the human body has two sex chromosomes. (medicinenet.com)
  • June 20 , 2003 - The human male sex chromosome does have the ability to repair itself and may not be headed for extinction as had previously been thought, according to a surprising new study. (urbandictionary.com)
  • The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. (harvard.edu)
  • 18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
  • But before we get into artificial human chromosomes (AHCs), let's quickly review what chromosomes are in the first place. (gizmodo.com)
  • The main attraction of creating an artificial human chromosome is that they can be passed down from generation to generation," says Stock. (gizmodo.com)
  • Chromosomes, Human, Pair 17" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
  • A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. (umassmed.edu)
  • This graph shows the total number of publications written about "Chromosomes, Human, Pair 17" by people in this website by year, and whether "Chromosomes, Human, Pair 17" was a major or minor topic of these publications. (umassmed.edu)
  • Below are the most recent publications written about "Chromosomes, Human, Pair 17" by people in Profiles. (umassmed.edu)
  • A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12. (uchicago.edu)
  • TCF7L2 was discovered as a type 2 diabetes susceptibility gene after a strong linkage signal was mapped to chromosome 10q in a Mexican-American population. (medscape.com)
  • Y chromosome-linked variation affects locomotor activity in male Drosophila melanogaster and is robust to differences in thermal environment. (harvard.edu)
  • We have previously found empirical evidence for antagonistic coevolution between the sex chromosomes in Drosophila melanogaster (see Lund-Hansen et al 2021, https://www.pnas.org/doi/full/10.1073/pnas.2003359118 ) and are now interested in determining how expression is altered in males with mis-matched sex chromosomes. (lu.se)
  • Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
  • The 23rd pair is composed of the sex chromosomes, either two X's, in the cases of females, or an X and a Y, in the case of males. (sciencedaily.com)
  • But along the way, they must have evolved new genes--on other chromosomes--that are responsible for making males. (urbandictionary.com)
  • XXYY syndrome happens when males have an extra X and Y chromosome, leading to developmental delays, extra height, and learning disabilities. (gizmodo.com)
  • females have two X chromosomes (XX) and males have one X chromosome and one Y chromosome (XY). (cdc.gov)
  • This meant that males could have matching autosomes and Y chromosome with a mismatched X, or matching autosomes and X chromosome with a mismatched Y. For this specific experiment we picked eight of the novel genotypes, which have previously been shown to exhibit phenotypic differences, as well as their corresponding wild type populations for RNA pooled sequencing. (lu.se)
  • Numerical changes occurred in 16 patients and breakpoint of chromosome 1 in 6 patients. (lu.se)
  • In order to investigate the demographic processes that gave rise to the current Cuban population, we analyzed the hypervariable region I (HVS-I) and five single nucleotide polymorphisms (SNPs) in the mitochondrial DNA (mtDNA) coding region in 245 individuals, and 40 Y-chromosome SNPs in 132 male individuals. (blogspot.com)
  • Studies done elsewhere identified the mechanism behind the silencing of X chromosomes: a gene called Xist, short for X-inactive specific transcript. (sciencedaily.com)
  • The team reasoned that if the repressor was in a region that was duplicated, it would work overtime and turn off Xist on both X chromosomes, leaving both the X chromosomes active and selectively changing the survival of male vs. female embryos. (sciencedaily.com)
  • The Weill Cornell Medicine investigators demonstrated that XIST is not alone empowered to turn off an X chromosome in every cell of a female mammal. (drugdiscoverynews.com)
  • The addition of methyl groups enables XIST to function to inactivate the X chromosome. (drugdiscoverynews.com)
  • XIST attaches itself at different points all along the X chromosome, silencing the genes that are located on the X chromosome," said senior author Dr. Samie Jaffrey, a professor of pharmacology at Weill Cornell Medicine. (drugdiscoverynews.com)
  • Methylation of XIST is the switch that starts the process, recruiting DC1, and subsequently the proteins that inactivate the X chromosome. (drugdiscoverynews.com)
  • NEW YORK-The addition of a chemical tag on an RNA molecule is the critical switch that inactivates one X chromosome in every cell, ensuring healthy development in all female mammals, according to new research by Weill Cornell Medicine investigators. (drugdiscoverynews.com)
  • A gene deriving from the ancestral sex chromosomes was lost from the X and retained on the Y chromosome in eutherian mammals. (harvard.edu)
  • The total part of the lineages of western Eurasian origin ("Caucasoid") was about 6% (4 haplotypes, haplogroups H, J, and U). Most of Y chromosomes in the Yakut population (87%) belonged to haplogroup N3 (HG16), delineated by the T-C substitution at the Tat locus. (blogspot.com)
  • There's all sorts of mechanisms and structures in place that would allow for the division and faithful reproduction of those chromosomes. (gizmodo.com)
  • Chromosomes are the structures that contain your genes and are within each cell. (msdmanuals.com)
  • The andromerogones for 5 sperm species showed a half of their respective diploid chromosome numbers without chromosome elimination. (bioone.org)
  • Typically, when a diploid cell divides, it first duplicates each of its chromosomes. (jove.com)
  • Chromosomes of haplogroup N3 displayed the presence of 19 microsatellite haplotypes, the most frequent of which encompassed 54% chromosomes of this haplogroup. (blogspot.com)
  • Pentasomy X is a rare disorder of the sex chromosomes, which only affects females and is characterized by the presence of five chromosomes "x" (49,xxxxx) instead of two (46,xx). (bvsalud.org)
  • Mitochondrial gene pool of Yakuts is mainly represented by the lineages of eastern Eurasian origin (haplogroups A, B, C, D, G, and F). In Yakuts haplogroups C and D showing the total frequency of almost 80% and consisting of 12 and 10 different haplopypes, respectively, were the most frequent and diverse. (blogspot.com)
  • An isochromosome is a chromosome with two identical arms. (medlineplus.gov)
  • The NF2 gene is a tumour suppressor on chromosome 22. (bmj.com)
  • The structure of female (mtDNA) and male (Y-chromosome haplotypes) lineages in the Yakut population was examined. (blogspot.com)
  • Strikingly, no Native American lineages were found for the Y-chromosome, for which the Eurasian and African contributions were around 80% and 20%, respectively. (blogspot.com)
  • This method is applicable for analysis of the haploid male chromosome complement in sea urchin species for which only sperm can be obtained. (bioone.org)
  • We analyzed the chromosome complement of a fibroblast culture and did histological examinations of testicular tissue from a tortoiseshell male cat referred to us. (karger.com)
  • As no sign of spermatogenesis was detected, we conclude that this is a classic case of a sterile, male tortoiseshell cat with a 39,XXY chromosome complement. (karger.com)
  • Thus, if a male has a hemophilia allele on his only X chromosome, he will have the disorder. (cdc.gov)
  • A female with a hemophilia allele on one X chromosome usually has a normal allele on her other X chromosome that can produce normal clotting factor, so she has some protection against having hemophilia. (cdc.gov)
  • A female can also have hemophilia if she inherits hemophilia alleles from both of her parents or if she inherits one hemophilia allele and her other X chromosomes is missing or does not work properly. (cdc.gov)
  • A father who has hemophilia passes his only X chromosome down to all of his daughters, so they will always get his hemophilia allele and be heterozygous (carriers). (cdc.gov)