Chromosome Fragile Sites
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Chromosome Fragility
Chromosomes
Chromosome Mapping
Chromosome Banding
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
X Chromosome
Chromosome Aberrations
Chromosomes, Human, 6-12 and X
Chromosome Breakage
Sex Chromosomes
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Chromosomes, Human, Pair 16
Chromosomes, Human
Aphidicolin
An antiviral antibiotic produced by Cephalosporium aphidicola and other fungi. It inhibits the growth of eukaryotic cells and certain animal viruses by selectively inhibiting the cellular replication of DNA polymerase II or the viral-induced DNA polymerases. The drug may be useful for controlling excessive cell proliferation in patients with cancer, psoriasis or other dermatitis with little or no adverse effect upon non-multiplying cells.
Chromosomes, Human, Pair 7
How many tumor suppressor genes are involved in human lung carcinogenesis? (1/223)
To date, only a limited number of tumor suppressor genes have been identified as being inactivated in lung cancer. The p53 and RB genes are frequently inactivated by genetic alterations such as chromosomal deletions and loss-of-function mutations, while the p16 gene is inactivated not only by genetic alterations but also by transcriptional silencing due to hypermethylation. Recently, it was shown that the FHIT gene encompassing the chromosomal fragile site, FRA3B, is also inactivated in a large proportion of lung cancers. Several lines of evidence indicate the presence of additional tumor suppressor genes involved in lung carcinogenesis. Lung cancer cells often show deletions at multiple chromosomal regions, and deletion mapping studies have defined more than 30 regions dispersed on 21 different chromosome arms as candidate tumor suppressor loci. Several chromosomal regions hypermethylated in lung cancer cells and a number of chromosomal fragile sites have been mapped to the regions deleted in lung cancer. These chromosomal loci can harbor unknown tumor suppressor genes inactivated in lung cancer. Studies on the inherited susceptibility to lung cancer in mice have also indicated the presence of additional tumor suppressor genes for lung cancer. Further analyses of these loci should elucidate how many tumor suppressor genes are involved in human lung carcinogenesis. Molecular and functional analyses of those genes will make it possible to fully understand the molecular mechanism of lung carcinogenesis. (+info)Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. (2/223)
Cytogenetic investigations were performed in 781 couples prior to intracytoplasmic sperm injection (ICSI) because of severe male infertility or fertilization failures in previous in-vitro fertilization attempts. Out of these 1562 patients, 1012 had a normal karyotype without any aberrations (64.8%), 204 patients had an abnormal karyotypes (13.1%). These chromosome aberrations included constitutional aberrations (4.4%), fragile sites of autosomes (3.0%), low level mosaicism of sex chromosomes (4.0%) and secondary structural chromosome aberrations (4.2%). Combinations of different types of abnormalities were stated. Another 346 patients (22.1%) showed single cell aberrations; the significance of these is unclear at the moment. Constitutional chromosome aberrations were detected in 69 patients. The following chromosome aberrations were observed: 35 sex chromosomal aberrations (comprising hyperploidies of X or Y chromosomes, mosaicisms and derivative X and Y chromosomes), 34 autosomal aberrations including 14 reciprocal translocations, five Robertsonian translocations, six inversions, one marker chromosome, one trisomy 18 mosaicism and seven other structural aberrations. Three autosomal regions showed fragile sites: 6q13 in 2.9% of the patients, 17p12 and 10q24 in 0.05% each. In conclusion, our data show that a high number of infertile couples in an ICSI programme are affected by chromosome aberrations which occur in both sexes. It is suggested that a chromosomal analysis should be performed on both partners before ICSI treatment is initiated. (+info)CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae. (3/223)
An expansion to >200 CGG/CCG repeats (hereafter called CGG) in the 5' region of the FMR1 gene causes fragile X syndrome, and this locus becomes a folate-sensitive fragile site. We used Saccharomyces cerevisiae as a model system to study the stability and fragility of CGG repeats. Tracts of (CGG)(81)and (CGG)(160)were integrated onto a yeast chromosome in both orientations relative to the nearest replication origin. Tracts of this length are pre-mutation alleles in humans, with a high probability of expansion in future generations. The CGG tracts in yeast colonies showed a length-dependent instability with longer tracts being more prone to contraction than shorter tracts. In addition, there was an orientation bias for tract stability with tracts having fewer contractions when the CCG strand was the template for lagging strand synthesis. Expansions of the CGG tracts also occurred in an orientation-dependent manner, although at a lower frequency than contractions. To determine whether CGG tracts are fragile sites in yeast, the CGG tracts were flanked by direct repeats, and the rate of recombination between the repeats determined. Strains carrying the (CGG)(160)tract in either orientation had a large increase in their rate of recombination compared with a no-tract control strain. Because this increase was dependent on genes involved in double-strand break repair, recombination was likely to be initiated by CGG tract-induced breakage between the direct repeats. The observation of orientation-dependent instability and orientation-independent fragility suggests that at least some aspects of their underlying mechanisms are different. (+info)Chromosomal fragile site FRA16D and DNA instability in cancer. (4/223)
It has been proposed that common aphidicolin-inducible fragile sites, in general, predispose to specific chromosomal breakage associated with deletion, amplification, and/or translocation in certain forms of cancer. Although this appears to be the case for the fragile site FRA3B and may be the case for FRA7G, it is not yet clear whether this association is a general property of this class of fragile site. The major aim of the present study was to determine whether the FRA16D chromosomal fragile site locus has a role to play in predisposing DNA sequences within and adjacent to the fragile site to DNA instability (such as deletion or translocation), which could lead to or be associated with neoplasia. We report the localization of FRA16D within a contig of cloned DNA and demonstrate that this fragile site coincides with a region of homozygous deletion in a gastric adenocarcinoma cell line and is bracketed by translocation breakpoints in multiple myeloma, as reported previously (Chesi, M., et al., Blood, 91: 4457-4463, 1998). Therefore, given similar findings at the FRA3B and FRA7G fragile sites, it is likely that common aphidicolin-inducible fragile sites exhibit the general property of localized DNA instability in cancer cells. (+info)A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D. (5/223)
We have identified a >600-kb region at 16q23.2 that is homozygously deleted from malignant ovarian ascites using representational difference analysis. Overlapping homozygous deletions were also observed in the colon carcinoma cell line HCT116 and a xenograft established from the small cell lung cancer cell line WX330. This region coincides with that described previously by others as showing loss of heterozygosity in prostate and breast cancers (C. Li et al., Genes Chromosomes Cancer, 24: 175-182, 1999; A. Latil et al., Cancer Res., 57: 1058-1062, 1997; K. Driouch et al., Genes Chromosomes Cancer, 19: 185-191, 1997; A. Iida et al., Br. J. Cancer, 75: 264-267, 1997). In addition, the minimally deleted region spans the common fragile site FRA16D. We have constructed a 700-kb physical map encompassing the deleted region. By fluorescence in situ hybridization of aphidicolin-induced metaphase chromosomes, we have preliminary data to suggest that P1-derived bacterial artificial chromosome clones from the contig lie on both sides of FRA16D. This is confirmed by extensive fluorescence in situ hybridization analysis of the region reported in the accompanying article (M. Mangelsdorf et al., Cancer Res., 60: 1683-1689, 2000) and is consistent with an involvement of this common fragile site in the loss of 16q23.2 material in various cancer types. The minimally deleted region of approximately 210 kb has been characterized using our own markers and public domain markers. Eleven distinct expressed sequences mapped to the region, providing a basis for identifying the predicted tumor suppressor gene in this region. (+info)Definitive functional evidence for a tumor suppressor gene on human chromosome 7q31.1 neighboring the Fra7G site. (6/223)
We have previously shown that loss of heterozygosity (LOH) on human chromosome (hchr) 7 at q31.1 is common in a variety of tumors of epithelial origin. Frequent LOH of a specific chromosomal marker is indicative of a closely linked tumor suppressor gene (TSG). However, recent reports have also indicated that such a high frequency of LOH could be due to the presence in this region of the second most common aphidicolin-inducible fragile site in the human genome (Fra7G). To address this controversy, we introduced single copies of hchr7 or hchr12 into a highly aggressive human prostate carcinoma cell line (PC3) by microcell-mediated transfer. The tumorigenicity of six clones of PC3/hchr7 hybrids and three clones of PCRhchr12 hybrids, obtained in four separate fusion experiments, were studied in BALB/c nude mice. All but one of the PC3/hchr7 hybrids increased tumor latency by at least twofold, whereas none of the PC3/hchr12 hybrids delayed tumor onset. No differences in the in vitro growth rate were observed among any of the cell lines assayed (parental and hybrids) suggesting that the observed tumor suppression was due to factors other than cell cycle regulation. Deletion mapping of the PC3/hchr7 tumors obtained after reversion to the malignant phenotype revealed a common region of loss centred around 7q31.1, supporting the TSG hypothesis. The smallest commonly deleted region was approximately 1.5 Mb in size and flanked by the markers D7S486 and D7S655. (+info)Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage. (7/223)
Folate-sensitive fragile sites are associated with the expansion and hypermethylation of CCG-repeats. The fragile site in 11q23.3, FRA11B, has been shown to cause chromosome deletions in vivo, its expression being associated with Jacobsen (11q-) syndrome. However, the majority of Jacobsen deletions are distal to FRA11B and are not related to its expression. To test the hypothesis that other unidentified fragile sites might be located in 11q23.3-24 and may cause these deletions, we have identified and characterised CCG-trinucleotide repeats within a 40 Mb YAC contig spanning distal chromosome 11q. Only eight CCG-repeats were identified within the entire YAC contig (not including FRA11B ), six of which map to the region of 11q23.3-24 that includes Jacobsen deletions. We have previously collated the deletion mapping data of 24 Jacobsen patients with the physical map of chromosome 11q, and accurately localised six breakpoints to short intervals corresponding to individual YAC clones. We now show that in each of these cases, YAC clones found to contain a deletion breakpoint also contain a CCG-repeat. The improved analysis of one of these deletions, together with those of several new Jacobsen cases, further strengthens this association by localising five breakpoints to individual PAC clones containing CCG-repeats. These data provide strong evidence for the non-random clustering of chromosome deletion breakpoints with CCG-repeats, and suggests that they may play an important role in a common mechanism of chromosome breakage. (+info)The expression of common fragile sites in peripheral blood lymphocytes of breast and colorectal cancer patients with aphidicolin. (8/223)
The frequency and distribution of aphidicolin induced common fragile sites was evaluated on chromosomes of peripheral blood lymphocytes in 10 breast and 10 colorectal cancer patients, and 10 healthy controls to determine correlation between specific fragile sites and cancer breakpoints. Fifty complete metaphases were screened from each culture and the results were evaluated by Student's t-test. The total number of fragile sites was found as 933 in breast cancer patients, 950 in colorectal cancer patients and 501 in control group. Both the number of aberrations per cell and number of aberrations per damaged cell were significantly higher in the patient groups. These findings indicate that genetic instability in the breast and colorectal cancer patients increased and fragile sites may play a critical role in the pathogenesis of breast and colorectal cancer. (+info)
HumCFS: a database of fragile sites in human chromosomes | BMC Genomics | Full Text
Deletion of the FHIT gene in neoplastic and invasive cervical lesions is related to high-risk HPV infection but is independent...
FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: Direct evidence for the coincidence of...
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Chromosomal fragile site
... a database of fragile sites in human chromosomes, published in BMC Genomics. Rare fragile sites (RFSs) are classified into two ... "Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression". American Journal ... "Heritable fragile sites on human chromosomes. X. New folate-sensitive fragile sites: 6p23, 9p21, 9q32, and 11q23". American ... The FRAXA site is perhaps most famous for its role in Fragile X syndrome, but fragile sites are clinically implicated in many ...
Genome instability
Durkin, Sandra G.; Glover, Thomas W. (Dec 2007). "Chromosome Fragile Sites". Annual Review of Genetics. 41 (1): 169-192. doi: ... These sites are called fragile sites, and can occur commonly as naturally present in most mammalian genomes or occur rarely as ... Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ... Although, seemingly harmful, these common fragile sites are conserved all the way to yeast and bacteria. These ubiquitous sites ...
Grant Robert Sutherland
Fragile sites on human chromosomes- a personal odyssey - Grant R Sutherland's narrative on his retirement, containing much more ... He developed methods to allow the reliable observation of fragile sites on chromosomes. These studies culminated in the ... Sutherland, Grant R.; Hecht, Frederick (1985). Fragile sites on human chromosomes. New York: Oxford University Press. ISBN ... He developed techniques to observe fragile sites, which allowed him to specify critical DNA fragments on the fragile X ...
Fragile X syndrome
... "fragile sites" (discontinuity of staining in the region of the trinucleotide repeat) on the long arm of the X chromosome. This ... "marker X chromosome" in association with intellectual disability. In 1970, Frederick Hecht coined the term "fragile site". And ... This was not as much of a problem in males, but in female carriers, where the fragile site could generally only be seen in 10% ... FMRP also occupies sites on meiotic chromosomes and regulates the dynamics of the DNA damage response machinery during ...
DAB1
2008). "Disabled-1 is a large common fragile site gene, inactivated in multiple cancers". Genes Chromosomes Cancer. 47 (2): 165 ... 2006). "Functional dissection of Reelin signaling by site-directed disruption of Disabled-1 adaptor binding to apolipoprotein E ... Genes on human chromosome 1, Peripheral membrane proteins, Phosphoproteins, Developmental neuroscience). ...
HOXD8
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
HOXD1
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
HOXD9
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
HOXD4
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, Wikipedia ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
HOXD12
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
HOXD13
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... HOXD13 is the first of several HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, Wikipedia ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
HOXD3
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ...
HOXD10
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1". Cytogenetics and Cell ... It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence- ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, All articles ...
HOXD11
"Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2, Wikipedia ... Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of ...
NAALADL2
In cancer, the fragile site located within NAALADL2 has been recently shown to be the fifth most altered of all fragile sites. ... Fields AP, Justilien V, Murray NR (January 2016). "The chromosome 3q26 OncCassette: A multigenic driver of human cancer". ... It has been shown that the gene encoding NAALADL2 is located within a fragile site, a genomic loci prone to breakage and ... Upon a break in this fragile site, through a process known as the fork stalling and template switching (FoSTeS), extra copies ...
BCL6B
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, All stub articles, ... to human chromosome 17p13.1 by in situ hybridization". Cytogenetics and Cell Genetics. 89 (3-4): 218-9. doi:10.1159/000015617. ...
WWOX
"Effect of exogenous E2F-1 on the expression of common chromosome fragile site genes, FHIT and WWOX". Biochem. Biophys. Res. ... Ramos D, Aldaz CM (2007). "WWOX, a chromosomal fragile site gene and its role in cancer". New trends in cancer for the 21st ... Ludes-Meyers JH, Bednarek AK, Popescu NC, Bedford M, Aldaz CM (2004). "WWOX, the common chromosomal fragile site, FRA16D, ... "Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and ...
ZNF19
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. GRCh38: Ensembl ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, Wikipedia articles ...
ZNF44
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... Genes on human chromosome 19, Transcription factors, All stub articles, Human chromosome 19 gene stubs). ... 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635-48. doi:10.1016/ ...
ZBTB17
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, Wikipedia articles ...
DIP2B
"CGG-Repeat Expansion in the DIP2B Gene is Associated with the Fragile Site FRA12A on Chromosome 12q13.1". The American Journal ... This gene is located near a folate-sensitive fragile site. Model organisms have been used in the study of DIP2B function. A ... Genes on human chromosome 12, Human proteins, Genes mutated in mice, All stub articles, Human chromosome 12 gene stubs). ... as well as AMP-binding sites. The presence of these sites suggests that DIP2B may participate in DNA methylation. ...
R. Ellen Magenis
Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man by R. Ellen Magenis, Frederick Hecht ... Magenis's first major research project involved a heritable fragile site on the long (q) arm of chromosome 16. She traced this ... 16q fragile site through a multigenerational family and, together with Hecht and Everett Lovrien, she linked the 16q fragile ... Her special interest continues to be in human chromosome mapping. Magenis died on February 4, 2014, after a long illness. Ellen ...
ZNF71
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, All stub articles, ... 2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529-35. Bibcode:2004Natur.428..529G. doi: ... "Cloning of six new genes with zinc finger motifs mapping to short and long arms of human acrocentric chromosome 22 (p and q11.2 ...
ZNF436
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, All stub articles, ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ...
ZNF22
1992). "Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". ... Gao Y, Kobayashi H, Ganss B (2004). "The human KROX-26/ZNF22 gene is expressed at sites of tooth formation and maps to the ... 1992). "A cluster of expressed zinc finger protein genes in the pericentromeric region of human chromosome 10". Genomics. 13 (3 ... "Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering". ...
DIP2A
2007). "CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1". Am. J. Hum. ... Genes on human chromosome 21, All stub articles, Human chromosome 21 gene stubs). ... Gardiner K, Slavov D, Bechtel L, Davisson M (2002). "Annotation of human chromosome 21 for relevance to Down syndrome: gene ...
Minisatellite
... s have been associated with chromosome fragile sites and are proximal to a number of recurrent translocation ... Minisatellites are prominent in the centromeres and telomeres of chromosomes, the latter protecting the chromosomes from damage ... which protect the ends of a chromosome from deterioration or from fusion with neighbouring chromosomes. ... In humans, 90% of minisatellites are found at the sub-telomeric region of chromosomes. The human telomere sequence itself is a ...
Fragile site, folic acid type, rare, fra(2)(q13)
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, All stub articles, Human ... Fragile site, folic acid type, rare, fra(2)(q13) is a protein that in humans is encoded by the FRA2B gene. "Human PubMed ... "Entrez Gene: Fragile site, folic acid type, rare, fra(2)(q13)". Retrieved 2017-04-04. ...
Mitotic recombination
In the simple crossover model, the two homologous chromosomes overlap on or near a common Chromosomal fragile site (CFS). This ... The net effect of this would be one heterozygous chromosome and one homozygous chromosome. Mitotic crossover is known to occur ... In either model, the chromosomes are not guaranteed to trade evenly, or even to rejoin on opposite sides thus most patterns of ... The resulting phenotype of the daughter cells depends on how the chromosomes line up on the metaphase plate. If the chromatids ...
FRA10AC1
2005). "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a ... "Entrez Gene: C10orf4 chromosome 10 open reading frame 4". Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein ... This gene is found within the rare FRA10A folate-sensitive fragile site. GRCh38: Ensembl release 89: ENSG00000148690 - Ensembl ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 10, Wikipedia articles ...
Jōmon period
Recent Y chromosome haplotype testing indicates that male haplogroups D-M55 (~30%) and C1a1 (5.4%) may reflect paternal Jōmon ... Small fragments, dated to 14,500 BCE, were found at the Odai Yamamoto I site in 1998. Pottery of roughly the same age was ... The manufacture of pottery typically implies some form of sedentary life because pottery is heavy, bulky, and fragile and thus ... He suggests that Y-chromosome haplogroups C1a1 and D-M55 are two of the Jōmon lineages. According to study "Jōmon culture and ...
FRA1J
Fragile site, 5-azacytidine type, common, fra(1)(q12) is a protein that in humans is encoded by the FRA1J gene. "Human PubMed ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, Human proteins, All stub ... "Entrez Gene: Fragile site, 5-azacytidine type, common, fra(1)(q12)". Retrieved 2013-08-12. ...
MicroRNA
The miRNA target site of an mRNA transcript can also be blocked by a steric-blocking oligo. For the "in situ" detection of ... fragile X mental retardation protein (FMRP), Tudor staphylococcal nuclease-domain-containing protein (Tudor-SN), the putative ... Chromosomes & Cancer. 50 (10): 812-22. doi:10.1002/gcc.20902. PMID 21748820. S2CID 9746594. Akçakaya P, Ekelund S, Kolosenko I ... 37 (Web Server issue): W356-62. doi:10.1093/nar/gkp294. PMC 2703907. PMID 19420067. Artmann S, Jung K, Bleckmann A, Beissbarth ...
FHIT
The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations ... spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract ... v t e (CS1: long volume value, Genes on human chromosome 3, All stub articles, Human chromosome 3 gene stubs). ... Bis(5'-adenosyl)-triphosphatase also known as fragile histidine triad protein (FHIT) is an enzyme that in humans is encoded by ...
PTPN5
The human STEP locus maps to chromosome 11p15.2-p15.1 and the murine STEP gene to chromosome 7B3-B5. The single STEP gene is ... The emergent model suggests that an optimal level of STEP is required at synaptic sites, and that both high and low levels ... STEP is also increased in fragile X syndrome, schizophrenia, and Parkinson's disease. In AD and FXS mouse models, genetic ... "Genetic manipulation of STEP reverses behavioral abnormalities in a fragile X syndrome mouse model". Genes, Brain and Behavior ...
Okazaki fragments
These mutations in the chromosomes can affect the appearance, the number of sets, or the number of individual chromosomes. ... When the PCNA binding site on DNA ligase I is inactive, DNA ligase I's ability to connect Okazaki fragments is severely ... For example, a mutation related to primase affects RNA primer removal and can make the DNA strand more fragile and susceptible ... Since chromosomes are fixed for each specific species, it can also change the DNA and cause defects in the genepool of that ...
MDP syndrome
One direct feature of the lipodystrophy is that the skin is fragile and there is not the protection normally provided by fat ... Recent research has suggested that it may be caused by an abnormality of the POLD1 gene on chromosome 19, which causes an ... "An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy". Nature Genetics ...
Cerebral palsy
Fragile X syndrome (a cause of autism and intellectual disability) and general intellectual disability must also be ruled out. ... Zayid, who has a home in Cliffside Park, N.J., recently returned from Hollywood, where she lived while working on developing ... "A gene for ataxic cerebral palsy maps to chromosome 9p12-q12". European Journal of Human Genetics. 8 (4): 267-272. doi:10.1038/ ... Since 2016, he is also the television play-by-play announcer for Chicago White Sox home games. Jack Carroll, British comedian ...
Moss
Vascular plants have two sets of chromosomes in their vegetative cells and are said to be diploid, i.e. each chromosome has a ... The uses for intact moss are principally in the florist trade and for home decoration. Decaying moss in the genus Sphagnum is ... The fossil record of moss is sparse, due to their soft-walled and fragile nature. Unambiguous moss fossils have been recovered ... By contrast, mosses and other bryophytes have only a single set of chromosomes and so are haploid (i.e. each chromosome exists ...
CYFIP1
v t e (Genes on human chromosome 15, All stub articles, Human chromosome 15 gene stubs). ... Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL (Jul 2001). "A highly conserved protein family interacting with the fragile X ... and based on the crystal structure of the WRC it is believed CYFIP1 provides the binding site for the complex to Rac1. ... Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral ...
CGGBP1
1994). "A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X ... The human gene is on chromosome 3 at 3p11.1, right next to the centromere, where it has four known promoters. CGGBP1 appears to ... Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788-95 ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, All stub articles, ...
Flower
"The Cross-Cultural Rhetoric Blog: Flowers in Russia". web.stanford.edu. Archived from the original on 2019-04-13. Retrieved ... While many such symbiotic relationships remain too fragile to survive competition with mainland organisms, flowers proved to be ... two copies of each chromosome) cell. Whereas in fertilization only plasmogamy, or the fusion of the whole sex cells, results, ... Archaeologists found in several grave sites remnants of flower petals. Flowers were first used as sacrificial and burial ...
Oxidative stress
Oxidation of methionine is shown to inhibit the phosphorylation of adjacent Ser/Thr/Tyr sites in proteins. This gives a ... cytoskeleton-mediated chromosome movements and emergence of the nuclear membrane. Thus, the evolution of meiotic sex and ... fragile X syndrome, sickle-cell disease, lichen planus, vitiligo, autism, infection, chronic fatigue syndrome, and depression; ... "Alpha-tocopherol protects against oxidative stress in the fragile X knockout mouse: an experimental therapeutic approach for ...
Mir-129 microRNA precursor family
that miR-129-1 is located in a fragile site region of the human genome near a specific site, FRA7H in chromosome 7q32, which is ... 2004). "Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers". Proc Natl Acad ... a site commonly deleted in many cancers. miR-129-2 is located in 11p11.2. miR-129 seems to have a tissue specific expression ...
Déjà vu
Although there is not currently a gene associated with déjà vu, the LGI1 gene on chromosome 10 is being studied for a possible ... Furthermore, people also tend to experience déjà vu more in fragile conditions or under high pressure, and research shows that ... a website dedicated to providing déjà experience information and research Nikhil Swaminathan, Think You've Previously Read ...
Genetic studies on Arabs
Kraft D (Mar 21, 2006). "A hunt for genes that betrayed a desert people". The New York Times on the Web. pp. F1, F4. PMID ... Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (November 2001). "The Y chromosome pool of Jews as part of ... and fragile X syndrome (FXS), which is an inherited genetic condition with critical consequences. The Centre provide ... Many of the genetic disorders specific to Arabs are located on HLA segment on chromosome 6. These same segment mutations are ...
Wheat
Some wheat species are diploid, with two sets of chromosomes, but many are stable polyploids, with four sets of chromosomes ( ... In free-threshing (or naked) forms, such as durum wheat and common wheat, the glumes are fragile and the rachis tough. On ... Remains of harvested emmer from several sites near the Karacadag Range have been dated to between 8600 (at Cayonu) and 8400 BC ... These have three sets of paired chromosomes, three times as many as in diploid wheat. At the point of the end user - the farmer ...
Photosynthesis
The estimation of CO2 at the site of carboxylation in the chloroplast, or CC, becomes possible with the measurement of ... Chloroplasts have many similarities with photosynthetic bacteria, including a circular chromosome, prokaryotic-type ribosome, ... "A paradigm of fragile Earth in Priestley's bell jar". Extreme Physiology & Medicine. 1 (1): 4. doi:10.1186/2046-7648-1-4. PMC ... Embedded within the stroma are stacks of thylakoids (grana), which are the site of photosynthesis. The thylakoids appear as ...
FAM49A
v t e (Genes on human chromosome 2, All stub articles, Human chromosome 2 gene stubs). ... Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788-95 ... "Cytoplasmic Fragile X Interacting Superfamily" region. GRCh38: Ensembl release 89: ENSG00000197872 - Ensembl, May 2017 GRCm38: ... Fam49A is located on human chromosome 2, at 2p24.3. It has 1512 base pairs in the reference sequence mRNA transcript. The ...
MiR-132
... has been found to associate with Fragile X Mental Retardation Protein FMRP, and may be involved in the selection of ... miR-132 arises from the miR-212/132 cluster located in the intron of a non-coding gene on mouse chromosome 11. The ... miR-132 and its recognition site on p250GAP mRNA are highly conserved among vertebrates, and their interaction is suspected to ... "MiR-132 Regulates Angiotensin II Type 1 Receptor Expression Through a Protein Coding Region Binding Site". Circulation. 118 (18 ...
List of ICD-9 codes 740-759: congenital anomalies
Both volumes can be downloaded for free from the website of the World Health Organization. 740 Anencephalus and similar ... so described 759.8 Other specified congenital anomalies 759.81 Prader-Willi syndrome 759.82 Marfan syndrome 759.83 Fragile X ... 758.9 Conditions due to anomaly of unspecified chromosome 759 Other and unspecified congenital anomalies 759.0 Anomalies of ... 758.6 Gonadal dysgenesis Turner syndrome XO syndrome 758.7 Klinefelter syndrome 758.8 Other conditions due to sex chromosome ...
Dudleya parva
The 2n chromosome number is 34. A budding specimen Budding flower stalks arising from the base The basal rosettes The entire ... The rhizomes often resemble shriveled roots for most of the year, and are very fragile. The rhizomes are not a good character ... Many of the sites occurring on private land cannot be adequately surveyed. Dudleya abramsii "Dudleya parva". explorer. ... Retrieved 18 October 2021.{{cite web}}: CS1 maint: url-status (link) (CS1 maint: url-status, Articles with short description, ...
DSC3
The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative ... 2005). "Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling ... the hair was fragile and began falling out at 2 to 3 months of age, eventually leaving only sparse hair on the scalp. Vesicles ... A nonsense mutation in the DSC3 gene (600271.0001) mapping to chromosome 18q12.1 was identified in the consanguineous Afghan ...
Ankylosing spondylitis
The site kickAS.org, referencing the work of Ebringer and others, has created a "No Starch Diet" guide. Prognosis is related to ... Single nucleotide polymorphism (SNP) A/G variant rs10440635 is close to the PTGER4 gene on human chromosome 5 has been ... which increases the risk of falls which can cause fracture of already-fragile vertebrae. Typical signs of progressed AS are the ... Some therapeutic exercises include: Exercise programs, either at home or supervised Low intensity aerobic exercise, e.g. ...
Orphan gene
"NCBI BLAST homepage". National Center for Biotechnology Information. National Institutes of Health, U.S. Department of Health ... De novo genes were once thought to be a near impossibility due to the complex and potentially fragile intricacies of creating ... Lents and colleagues recently reported the existence of several young microRNA genes on human chromosome 21. The duplication ... They proposed that these genes must be evolving too quickly to be detected and are consequently sites of very rapid evolution. ...
C1orf127
"C1orf127 chromosome open reading frame 127 [Homo sapiens (human)]". Retrieved 19 February 2018. Liu YY, Chen HY, Zhang ML, Tian ... C1orf127 undergoes N and O-linked glycosylation, and contains a number of potential phosphorylation sites. C1orf127 is ... D, Li S, Lee JY (September 2012). "Loss of fragile histidine triad and amplification of 1p36.22 and 11p15.5 in primary gastric ... It is oriented on the minus strand of the chromosome. The primary assembly has 13 exons, and yields an 823 amino acid protein ...
Fragile sites in human chromosomes as regions of late-replicating DNA | UW Biology
Polbase - Reference: Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast.
Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast. ... fragile sites) are hot spots for the ... Specific regions of genomes (fragile sites) are hot spots for the chromosome ... Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast. Lemoine FJ, Degtyareva NP, Kokoska ... We previously identified two chromosome fragile sites in Saccharomyces cerevisiae that were induced in response to the reduced ...
DNA Replication News, Research - Page 12
Researchers discover how and where chromosome fragile sites occur in human DNA Using a novel method they developed to map ... of Upstate Medical University and her colleagues have discovered new information as to how and where chromosome fragile sites ... This site complies with the HONcode standard for trustworthy health information: verify here. ... Studying telomeres, the structures that protect the ends of chromosomes, has become a key issue in biology. In recent years, ...
Greenwell PW - Search Results - PubMed
Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae. Song W, Dominska M, Greenwell PW, ... Chromosome rearrangements via template switching between diverged repeated sequences. Anand RP, Tsaponina O, Greenwell PW, Lee ... This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features! ... Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure youre on a federal ...
Pervasive chromosomal instability and karyotype order in tumour evolution | Nature
... including gains in chromosome 8q24.1 (encompassing MYC) in clear cell renal cell carcinoma and chromosome 11q13.3 ( ... Focal amplifications that affected chromosomes 1q21 (which encompasses BCL9, MCL1 and ARNT), 5p15.33 (TERT), 11q13.3 ( ... However, loss of heterozygosity at the human leukocyte antigen (HLA) locus and loss of chromosome 8p to a single haploid copy ... intermediate and late consensus peak events with chromosome fragile sites. Heat map indicating the resulting P values from ...
PRKN gene: MedlinePlus Genetics
The PRKN gene spans part of a region on chromosome 6 known as FRA6E. This region is known as a fragile area because it is ... Alterations in the common fragile site gene Parkin in ovarian and other cancers. Oncogene. 2003 Nov 13;22(51):8370-8. doi: ... MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our ... The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care ...
fragile-X chromosome
- Students | Britannica Kids |...
... the lines point to the fragile site at the tip of the long arm of each. Males who inherit a fragile-X chromosome exhibit ... The right-hand member in each of these two pairs of X chromosomes is a fragile-X chromosome; ... The right-hand member in each of these two pairs of X chromosomes is a fragile-X chromosome; the lines point to the fragile ... site at the tip of the long arm of each. Males who inherit a fragile-X chromosome exhibit intellectual disability as well as a ...
Evolutionary insights in Amazonian turtles (Testudines, Podocnemididae): co-location of 5S rDNA and U2 snRNA and wide...
Fragile sites, dysfunctional telomere and chromosome fusions: What is 5S rDNA role? ... This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy. ... Cytogenetic insights into the evolution of chromosomes and sex determination reveal striking homology of turtle sex chromosomes ... Heterochromatic regions of chromosome pair 10 of P. expansa and pairs 9 and 10 of P. unifilis had low signal intensities for ...
Welcome to PhenoDis
The fragile site at Xq28 was not found on chromosome study of the proband. These authors rejected the pedigree of Vasquez et al ... Genetic analysis excluded fragile X syndrome, and radiographic analysis excluded Coffin-Lowry syndrome. Linkage studies ... 1991). Because of the possibility of an X-chromosome contiguous gene syndrome with different sized deletions, they performed ... and permitted exclusion of distal Xp and Xq regions as the site of the mutation. Cole et al. (1991) suggested that the family ...
Shui-zhang Fei - Department of Horticulture
Vignette: pioneering geneticist, Julia Bell (1879-1979) | MDDUS
A "fragile site" can now be demonstrated on the X-chromosome.. Aged 62 Julia received the Weldon memorial prize and medal for ... Home Search. Search for hints, e.g. topics, roles, articles, training & CPD, etc. ... Home Resources Publications Publications library Insight Vignette: pioneering geneticist, Julia Bell (1879-1979) ... Julia grew up amid the hurly-burly of home life and the sound of music being played. Photographs show a slim young woman with a ...
Greedy goblin: Glass ceiling
There are fragile sites in many chromosomes, and the X chrosome even has a disease named after one of these sites.. If you look ... However the X chromosome has much more genes than an average somatic chromosome, so this effect is not negligable (granted, ... These chromosomes are linked independently of the sexual chromosomes and can manifest themselves in both males and females. For ... So that would mean most genes related to IQ, aggressivity and so on are located on the X chromosome in your theory ?. I find ...
Chromosome Fragility
Summary Report | CureHunter
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other ... the pattern and the frequency of expression of fragile sites in XP patients and in their parents were similar to normal. ". 12/ ... Chromosome Fragility. Subscribe to New Research on Chromosome Fragility Susceptibility of chromosomes to breakage leading to ... affecting all chromosomes. ". 11/01/2015 - "This chromosome fragility involves the generation of chromosome/chromatid gaps or ...
DeCS - Changed Terms
DeCS - Changed Terms
DeCS
Chromosome Fragile Site Fragile Site, Chromosome Fragile Sites, Chromosome Site, Chromosome Fragile Sites, Chromosome Fragile ... Chromosome Fragile Site. Fragile Site, Chromosome. Fragile Sites, Chromosome. Site, Chromosome Fragile. Sites, Chromosome ... FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X ... FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X ...
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS - Changed Terms
DeCS
DELETIONFragilityShort arm of chromosomeChromosomal fragileInstabilityRepeatsBreakageGenomicFolate-sensitiveExtra chromosomeGenomeIntellectual disabilitySequenceAUTISMSaccharomycesAberrationsTreatment for fragileReplicationAbnormalitiesFRA6EOverexpressionNeural developmentHumanFMRPMammalianSyndrome is a geneticFRA3BProteinDisordersTumorConstitutiveMalesGenomesMolecularMutationAnnotationTelomeresGenesFMR1SequencesCommonDisorderBehaviorPoorlyProteinsRegionsCancerVirusesPairStem CellsSymptomsMechanismsStrandFormAllelesPopulation
DELETION4
- If some therapies are invented to stop the deletion of fragile sites then serious situations in breast cancer can be prevented. (uniassignment.com)
- Jacobsen syndrome (JBS) is a syndrome caused by partial deletion of chromosome 11 long arm. (stripy.org)
- For some children with autism, fragile X syndrome or 22q11.2 deletion syndrome , getting a shot can be a traumatic, challenging experience. (ucdavis.edu)
- HS is described in patients with translocation of chromosome 8 or deletion of the short arm of chromosome 8, where the ankyrin gene is located. (medscape.com)
Fragility1
- 0.001) of chromosome fragility, as well as other numerical and structural aberrations in breast cancer patients when compared to the control group. (curehunter.com)
Short arm of chromosome1
- Removal of chromosome and loss of heterozygosity in the short arm of chromosome 3p is very common in various forms of epithelial tumors like breast, kidneys and lungs. (uniassignment.com)
Chromosomal fragile1
- The WW domain-containing oxidoreductase (WWOX) gene is located on chromosome 16q23.3-q24.1 and contains the common chromosomal fragile site, FRA16D. (namikkemalmedj.com)
Instability3
- Reference: Reduced levels of DNA polymerase delta induce chromosome fragile site instability in yeast. (neb.com)
- In the study presented here, we show that reduced levels of Pol3p, the catalytic subunit of DNA polymerase delta, induce instability at these same sites and lead to the generation of a variety of chromosomal aberrations. (neb.com)
- In Pol ι-depleted cells, the excess participation of PrimPol in nascent DNA elongation reduces replication stress signals, but thereby also checkpoint activation in S phase, triggering chromosome instability in M phase. (bvsalud.org)
Repeats4
- It was proposed that amplification of this interval occurred prior to HSA2 fusion and LCRs located close to the ancestral fusion sites might have facilitated the rearrangement between the closely flanking telomeric repeats of the two ancestral chromosomes. (biomedcentral.com)
- and could be responsible for the pathogenesis of the disease through methylated expanded repeats, which could delay DNA replication and thus, result in chromosome ( Jones, 2000 ). (stripy.org)
- People with different numbers of CGG repeats have different risks of developing fragile X-associated disorders and of having children with FXS. (cdc.gov)
- A male has only one copy of the FMR1 gene on his only X chromosome, so the group a male is in is based on the number of CGG repeats in that one copy. (cdc.gov)
Breakage3
- This region is known as a fragile area because it is unstable and prone to breakage and rearrangement. (medlineplus.gov)
- 2008. 45S rDNA regions are chromosome fragile sites exhibiting spontaneous breakage in meristematic cells of root tips in Lolium species. (iastate.edu)
- or other CHROMOSOME BREAKAGE related aberrations. (curehunter.com)
Genomic6
- Its heterozygous to homozygous conversion, fixation, and accumulation in the succeeding populations was likely facilitated by an evolutionary advantage through the genomic loss rather than deregulation of expression of the gene(s) flanking the HSA2 fusion site at 2q13. (biomedcentral.com)
- analyzed the low-copy repeat (LCR)-rich complex genomic structure and gene content of the ~ 600 kb region surrounding the fusion site at 2q13 and mapped the chromosome junction within degenerate telomeric arrays in an intron of the non-coding DDX11L2 (DEAD/H-box helicase 11 like 2) transcript [ 13 , 14 ]. (biomedcentral.com)
- Common fragile sites are unbalanced genomic loci which can split, reorganize and again merge together [3].In vitro, these fragile sites show amplified rate of gaps and rupture of cells when they are in duplication stress. (uniassignment.com)
- WWOX gene is located at 16q23.3-24.1 and has a common fragile site FRA16D.On genomic study it shows 9 exons which codes mRNA which is 2.2kb which encodes 46 kDa of WWOX protein having 414 amino acids. (uniassignment.com)
- Whether the aneuploidy is compatible with life depends on the chromosome (dosage sensitivity of the genomic content) involved and the level of involvement, whether mosaic or non-mosaic. (lidsen.com)
- Graph theory analysis of genomic problems: community analysis of fragile sites correlations and of pseudogenes alignments: Re A, Molineris I, Caselle M. (linkgroup.hu)
Folate-sensitive1
- Population cytogenetics of folate-sensitive fragile sites. (dbcls.jp)
Extra chromosome1
- Glutathione is commonly deficient in individuals with Down Syndrome, due to the extra chromosome & overexpression of the SOD-1 gene. (blogspot.com)
Genome12
- Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae. (nih.gov)
- However, loss of heterozygosity at the human leukocyte antigen (HLA) locus and loss of chromosome 8p to a single haploid copy recurred at substantial subclonal frequencies, even in tumours with whole-genome doubling, indicating ongoing karyotype remodelling. (nature.com)
- Genome integrity requires replication to be completed before chromosome segregation. (bvsalud.org)
- Importantly, chromosome alignments, including positions of the active and vestigial [ 17 ] centromeres, as well as the current genome assemblies of HSA2, PTR12, and PTR13 chromosomes indicate that a few megabases of mostly repetitive satellite-rich subtelomeric DNA have been lost on both ancestral chromosomes (referred to as IIp and IIq) during the formation of HSA2 (Fig. 1 ). (biomedcentral.com)
- Alignment of G-banded human (HSA2) and chimpanzee (PTR12 and PTR13) metaphase chromosomes demonstrates that a few megabases of subtelomeric regions (mainly repetitive satellite DNA) are absent in the human genome. (biomedcentral.com)
- After the completion of a draft human genome sequence 1 , the International Human Genome Sequencing Consortium has proceeded to finish 2 and annotate each of the 24 chromosomes comprising the human genome. (elsevier.com)
- The chromosome is remarkable in having the lowest rate of segmental duplication in the genome. (elsevier.com)
- It also includes a chemokine receptor gene cluster as well as numerous loci involved in multiple human cancers such as the gene encoding FHIT, which contains the most common constitutive fragile site in the genome, FRA3B 3 . (elsevier.com)
- A very large and comprehensive online genetics resource,displaying information from all aspects of genetics today, Human chromosomes, genetic disorders, Genome project and topics of interest. (thebiozone.com)
- This site is hosted by a member of the Mouse Genome Sequencing Consortium, and presents the latest mouse draft sequence based principally on the whole genome shotgun of around 7x coverage. (thebiozone.com)
- Topics include: introductory web sites on molecular genetics, DNA technology, genome programs and ethics. (thebiozone.com)
- Linkage studies are either performed as full genome screens with a dense set of genetic markers covering all chromosomes, or locally (fine-mapping) at a certain chromosomal area of interest. (springer.com)
Intellectual disability6
- Males who inherit a fragile-X chromosome exhibit intellectual disability as well as a range of developmental and behavioral challenges. (britannica.com)
- Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. (wisc.edu)
- A family history of fragile X syndrome, developmental problems, or intellectual disability may not be present. (medlineplus.gov)
- Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. (bmedreport.com)
- We have shown for the first time that some of the proteins altered in Fragile X and Down syndromes are common molecular triggers of intellectual disability in both disorders," said Kyung-Tai Min, one of the lead authors of the study and a professor at Indiana University and the Ulsan National Institute of Science and Technology in Korea. (bmedreport.com)
- Two of the most prevalent genetic causes of intellectual disability in humans are Fragile X and Down syndromes. (bmedreport.com)
Sequence6
- Variability in stability of the DNA sequence is seen at CHROMOSOME FRAGILE SITES. (uams.edu)
- Next generation sequencing of Homo heidelbergensis and Homo erectus genomes and complete reconstruction of DNA sequence of the orthologous subtelomeric chromosomes in Great Apes should enable more precise timing of HSA2 formation and better understanding of its evolutionary consequences. (biomedcentral.com)
- This page lists all sequence and annotation changes that have been made to the Chromosome VIII systematic reference sequence since its intial release on 1996-07-31. (yeastgenome.org)
- The sequence of Chromosome VIII has been updated 33 times, affecting 40 features. (yeastgenome.org)
- Chromosome 3 comprises just four contigs, one of which currently represents the longest unbroken stretch of finished DNA sequence known so far. (elsevier.com)
- The 5S rDNA sequence occurred in only one pair in P. leopardus , and in multiple sites in Pseudacanthicus sp. (planetcatfish.com)
AUTISM6
- She studies the two fragile X proteins, FMRP and FXR2P, because doing so could yield new information that ultimately leads to treatment for fragile X and other disorders marked by defects in neuronal development, like autism and schizophrenia. (wisc.edu)
- For instance, while FXR2P has been shown to be important in autism, the function of the protein and its contribution to fragile X syndrome has been unclear, Zhao says. (wisc.edu)
- Up to a third of people with fragile X also have autism. (wisc.edu)
- Her research group will continue to study these proteins and the role they play in neural development and fragile X syndrome - work that's likely to influence other fields of inquiry in autism and beyond. (wisc.edu)
- They worry about sensory overload, providers who aren't as familiar with caring for kids with autism or fragile X syndrome, and who may not have the flexibility to adapt to their needs. (ucdavis.edu)
- Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions. (medlineplus.gov)
Saccharomyces2
- We previously identified two chromosome fragile sites in Saccharomyces cerevisiae that were induced in response to the reduced expression of Pol1p, the catalytic subunit of DNA polymerase alpha. (neb.com)
- Genetic analysis of a meiotic recombination hotspot on chromosome III of Saccharomyces cerevisiae. (nih.gov)
Aberrations1
- Aneuploidy is a major category of chromosomal aberrations present in humans and is defined as any chromosome number that is not an exact multiple of the haploid number [ 1. Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia: Elsevier; 2016. ">1 ]. (lidsen.com)
Treatment for fragile1
- There is no specific treatment for fragile X syndrome. (medlineplus.gov)
Replication3
- Under-replication of common fragile sites (CFSs), however, escapes surveillance, resulting in mitotic chromosome breaks. (bvsalud.org)
- Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. (cocites.com)
- This site contains a shockwave animated exercise about DNA replication and protein synthesis, and links to supporting information. (thebiozone.com)
Abnormalities2
- The two major causes of POF are sex chromosome abnormalities (eg, Turner syndrome) and autoimmune oophoritis. (medscape.com)
- [ 4 , 5 ] Although sex chromosome abnormalities usually present with primary amenorrhea (PA) and complete gonadal failure, an incomplete phenotype, sometimes from genetic mosaicism, manifests after a variable period of relatively normal menstrual function. (medscape.com)
FRA6E2
- The PRKN gene spans part of a region on chromosome 6 known as FRA6E. (medlineplus.gov)
- The breakpoints are located between chromosome regions 6q25.3 and 6q26, within the fragile site FRA6E. (cdc.gov)
Overexpression1
- Segmental chromosome alterations converge on overexpression of mitotic spindle regulatory genes in high risk neuroblastoma. (linkgroup.hu)
Neural development1
- Fragile X syndrome arises from a single gene mutation that prevents the synthesis of a protein required for neural development (Fragile X mental retardation protein). (bmedreport.com)
Human5
- The reduction in chromosome number was caused by the head-to-head fusion of two ancestral chromosomes to form human chromosome 2 (HSA2) and may have contributed to the reproductive barrier with Great Apes. (biomedcentral.com)
- 8. Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. (bvsalud.org)
- Here we describe the sequencing and analysis of human chromosome 3, one of the largest human chromosomes. (elsevier.com)
- Every human cell contains 23 pairs of chromosomes. (cdc.gov)
- Long G tails at both ends of human chromosomes suggest a C strand degradation mechanism for telomere shortening. (cocites.com)
FMRP2
- It's linked to a mutation in the gene that makes the FMRP protein, located on the X chromosome. (wisc.edu)
- The scientists revealed that the Down syndrome critical region 1 protein (DSCR1) interacts with Fragile X mental retardation protein (FMRP) to regulate dendritic spine formation and local protein synthesis. (bmedreport.com)
Mammalian1
- Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. (cocites.com)
Syndrome is a genetic3
- The fragile X syndrome is a genetic disorder, identified microscopically by a constriction called fragile site on the long arm of chromosome X, considered the main inherited cause of mental disability associated with several neurological disorders. (bvsalud.org)
- Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. (medlineplus.gov)
- Fragile X syndrome is a genetic disorder that causes a spectrum of complications that includes learning disabilities and cognitive decline. (pregnancymanuals.com)
FRA3B1
- It causes a large number of deaths worldwide.FRA3B is the common fragile site where Fragile Histidine Triad is located and FRA16D is the common fragile site for the location of WW domain having oxidoreductase. (uniassignment.com)
Protein2
- FRA10AC1, the causative gene for the manifestation of the FRA10A fragile site, encodes a well-conserved nuclear protein characterized as a non-core spliceosomal component. (bvsalud.org)
- Approximately 50% of patients with severe recessive HS have a point mutation at codon (969) that results in an amino acid substitution (alanine [Ala]/aspartic acid [Asp]) at the corresponding site in the alpha-spectrin protein. (medscape.com)
Disorders3
- The findings suggest that fostering new nerve cell development during the postnatal period may have therapeutic potential for people with fragile X syndrome and other neurological disorders," says Zhao. (wisc.edu)
- To understand how FXS is inherited, it helps to know about the changes in the FMR1 gene that cause FXS and other fragile X-associated disorders . (cdc.gov)
- However, they may have a slightly higher chance of having some symptoms related to other fragile X-associated disorder s and may pass the slightly higher chance of having these disorders to their children. (cdc.gov)
Tumor3
- Similarly, in ductal carcinoma in situ it changed from 45% to 55% and p value was 0.879 and in invasive ductal carcinoma the values changed from 27% to 39% with a p value of 0.595.So, the lost of common fragile site of tumor suppressor gene in breast cancer were observed. (uniassignment.com)
- Breast cancer, tumor suppressor gene, common fragile sites. (uniassignment.com)
- The aim of this study to monitor the loss of common fragile sites of tumor suppressor genes (WWOX and FHIT) with the progression of breast cancer from normal breast tissues to invasive ductal carcinoma. (uniassignment.com)
Constitutive1
- Constitutive heterochromatin occurred in blocks on a few chromosomes. (planetcatfish.com)
Males3
- The central point of the idea is the bigger variance of males due to their XY chromosome. (blogspot.com)
- Fragile X is a genetic condition that affects one in 4,000 males and one in 8,000 females. (wisc.edu)
- Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). (cdc.gov)
Genomes1
- Specific regions of genomes (fragile sites) are hot spots for the chromosome rearrangements that are associated with many types of cancer cells. (neb.com)
Molecular4
- Understanding the molecular mechanisms regulating the stability of chromosome fragile sites, therefore, has important implications in cancer biology. (neb.com)
- Miller focused on two examples from molecular biology: a pseudogene and a fused chromosome. (blogspot.com)
- An extraordinarily comprehensive site covering all aspects of genetics from basic molecular genetics to stem cell and gene technology. (thebiozone.com)
- Maintained by the Molecular Biology Notebook Online, this site introduces students of biology to molecular biology. (thebiozone.com)
Mutation6
- Researchers at USC have developed a yeast model to study a gene mutation that disrupts the duplication of DNA, causing massive damage to a cell's chromosomes, while somehow allowing the cell to continue dividing. (news-medical.net)
- FXS is caused by a change (mutation) in the Fragile X Messenger Ribonucleoprotein 1 ( FMR1 ) gene. (cdc.gov)
- This is because the syndrome is caused by a mutation of a gene located on the X chromosome. (pregnancymanuals.com)
- Since women have two X chromosomes, if they inherit a chromosome that carries the mutation, they always have another with the normal gene. (pregnancymanuals.com)
- However, in men, since they only have one X chromosome, if it has the mutation, the man will suffer from fragile X syndrome. (pregnancymanuals.com)
- The target site mutation G119S in the Ace-1 gene ( Ace-1R ) resistance management strategies must reduce the current and L1014F and L1014S kdr mutations were screened by overreliance on pyrethroids. (cdc.gov)
Annotation1
- The annotation of Chromosome VIII has been updated 24 times, affecting 69 features. (yeastgenome.org)
Telomeres1
- Studying telomeres, the structures that protect the ends of chromosomes, has become a key issue in biology. (news-medical.net)
Genes4
- The new results that made me pick this post out of the file support the theory, that the male Y chromosome, despite considered being small, fragile and weak, is enduring and stable, due to having the important genes as duplicates on itself. (blogspot.com)
- Genes Chromosomes Cancer. (linkgroup.hu)
- Genes are found on chromosomes. (cdc.gov)
- The chromosomes and genes have a special code called DNA. (cdc.gov)
FMR14
- The FMR1 gene is on the X chromosome. (cdc.gov)
- A female has two copies of the FMR1 gene, one on each of her two X chromosomes. (cdc.gov)
- Fragile X syndrome is caused by a change in a gene called FMR1 . (medlineplus.gov)
- SA can also result from pituitary causes (Sheehan syndrome, empty sella syndrome), hypothyroidism , and fragile-X premutations ( FMR1 gene expansions). (medscape.com)
Sequences2
- Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. (liu.edu)
- Telomeric sequences did not show interstitial sites. (planetcatfish.com)
Common1
- The aim of this study was to observe the loss of common fragile sites with the progression of breast cancer. (uniassignment.com)
Disorder3
- Carriers can pass it on to future generations and are at greater risk for a Parkinson's disease-like disorder called fragile X-associated tremor/ataxia syndrome . (wisc.edu)
- Fragile X syndrome (FXS) is a genetic disorder. (cdc.gov)
- They do not have FXS but they might have, or may later develop, other fragile X-associated disorder s. (cdc.gov)
Behavior1
- I was unaware of my fragile emotions until they began to ask questions about behavior and development. (deartessa.com)
Poorly1
- Studies in Dropsophila had yielded genetic charts but the lower genetic variation and poorly defined chromosomes made similar studies in mammals difficult. (mddus.com)
Proteins3
- In a new study published June 4 in the journal Cell Reports , researchers from the University of Wisconsin-Madison Waisman Center and Department of Neuroscience show that two proteins implicated in fragile X play a crucial role in the proper development of neurons in mice. (wisc.edu)
- This is the first demonstration of the additive function of fragile X proteins in neuronal development," says study corresponding author and Waisman Center and Department of Neuroscience Professor Xinyu Zhao . (wisc.edu)
- We had been doing biochemical experiments and we noticed that MECP2 was one of the proteins that were in the vicinity of the REST binding sites. (wordpress.com)
Regions2
- The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY . (liu.edu)
- There are four main regions of chromosomes 3p (3p25, 3p21.3, 3p14.2 and 3p12) involved in different disease states. (uniassignment.com)
Cancer1
- Analysis of an independent series of 1,024 metastatic samples revealed that 13 focal SCNAs were enriched in metastatic samples, including gains in chromosome 8q24.1 (encompassing MYC ) in clear cell renal cell carcinoma and chromosome 11q13.3 (encompassing CCND1 ) in HER2 + breast cancer. (nature.com)
Viruses1
- Included are sections on subjects such as Viruses, The Eukaryotic Chromosome and The Lac Operon. (thebiozone.com)
Pair2
Stem Cells2
Symptoms1
- 10500 ='Chest pain and related symptoms' 10501 ='Chest pain' 10502 ='Chest discomfort, pressure, tightness' 10503 ='Burning sensation in the chest' 10550 ='Pain, specified site not referable to. (cdc.gov)
Mechanisms3
- Unlocking the mechanisms behind fragile X could make important revelations about the brain. (wisc.edu)
- Relatively little is known about the underlying mechanisms that lead to the cognitive and learning deficits in fragile X syndrome, Zhao says, making it difficult to devise effective therapies. (wisc.edu)
- Mechanisms like trisomy rescue or selection against aneuploidies may result in mosaicism and promote subsequent survival in live-born individuals, depending on the chromosomes involved. (lidsen.com)
Strand1
- The occurrence of DNA double-strand breaks related to fragile sites, unequal crossing over and transpositions is proposed as the mechanism of karyotypic diversification, suggesting that the conservation of the karyotypic macrostructure is only apparent in this group of fish. (planetcatfish.com)
Form1
- Volunteers (n=31) with fragile X syndrome were submitted a structured form, physical and oral exam and the multidisciplinary form was analyzed. (bvsalud.org)
Alleles1
- Linkage can be defined as the tendency for alleles close together on the same chromosome to be transmitted together, as an intact unit, through meiosis. (springer.com)
Population1
- These findings emphasize the need of close and tailored monitoring of dementia patients to reduce the impact of COVID-19 on this fragile population. (iospress.com)