• For single stranded breaks, replication occurs until the location of the break, then the other strand is nicked to form a double stranded break, which can then be repaired by Break Induced Replication or homologous recombination using the sister chromatid as an error-free template. (wikipedia.org)
  • When DSBs are repaired by homologous recombination, DNA ends can undergo extensive processing, producing long stretches of single-stranded DNA (ssDNA). (uthscsa.edu)
  • Mutations in Tel1, Mec1, and Rmr3 helicase result in a significant increase of chromosomal recombination. (wikipedia.org)
  • These sites are called fragile sites, and can occur commonly as naturally present in most mammalian genomes or occur rarely as a result of mutations, such as DNA-repeat expansion. (wikipedia.org)
  • We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
  • The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
  • Mutations affecting these genes leads to a higher risk of developing breast and/or ovarian cancer. (frontlinegenomics.com)
  • Mutations of the CFTR gene result in cystic fibrosis which leads to thickened mucus in the lungs and frequent respiratory infections. (frontlinegenomics.com)
  • 21 allelic mutations have been discovered in the APP gene. (findzebra.com)
  • DNA sequences that form secondary structures or bind protein complexes are known barriers to replication and potential inducers of genome instability. (uthscsa.edu)
  • We show that the Srs2 protein facilitates replication of hairpin-forming CGG/CCG repeats and prevents chromosome fragility at the repeat, whereas it does not affect replication of G-quadruplex forming sequences or a protein-bound repeat. (uthscsa.edu)
  • A candidate gene is a gene located within a chromosomal region that is suspected of being involved in a given trait or function. (frontlinegenomics.com)
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
  • The cystic fibrosis transmembrane conductance regulator ( CFTR ) gene encodes for an ATP-binding cassette (ABC) transporter-class ion channel. (frontlinegenomics.com)
  • These guarantee onset of early-onset familial Alzheimer disease and all occur in the region of the APP gene that encodes the Aβ domain. (findzebra.com)
  • Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ataxia, and Huntington's disease, most of which are caused by expansion of repeats at the DNA, RNA, or protein level. (wikipedia.org)
  • It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
  • CRISPR stands for clustered regularly interspaced short palindromic repeats and Cas9 stands for CRISPR-associated protein 9. (frontlinegenomics.com)
  • Another source of genome instability may be epigenetic or mutational reductions in expression of DNA repair genes. (wikipedia.org)
  • It is essential for cell viability, being a key regulator of gene expression, cell proliferation, and stem cell renewal and an important factor for genome stability. (uthscsa.edu)
  • G-quadruplexes are secondary semi-stable folded structures found in our DNA and RNA which tend to assemble around guanine-rich sequences in the presence of cation molecules like potassium. (anti-agingfirewalls.com)
  • We now know those structures are very relevant to many critical biological processes like gene regulation, expression of telomerase and telomere maintenance, understanding of growth/oncogenes like C-myc, understanding of organismic development, comprehension of certain enigmatic diseases like ALS and possible new cancer treatments. (anti-agingfirewalls.com)
  • We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
  • Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)
  • The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
  • Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
  • In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
  • ease or are within disease genes. (scirp.org)
  • An example is the Saccharomyces pombe gene rad9 which arrests the cells in late S/G2 phase in the presence of DNA damage caused by radiation. (wikipedia.org)
  • Following expansion, these cells are re-infused back into the patient to kill tumour cells with the specific antigen. (frontlinegenomics.com)
  • In addition, 437 genes show DNAm aberrance status in high TMB patient group and 99 have been reported as its association with lung cancer. (biomedcentral.com)
  • Heat can affect their coming and going, and their presence near promoter elements can block gene activation. (anti-agingfirewalls.com)
  • Polyalanine expansions in two of three large imperfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand-foot-genital syndrome (HFGS). (nih.gov)
  • Fragile X syndrome (FXS) is caused by the maternal expansion of an unstable CGG-repeat tract located in the first exon of the FMR1 gene. (frontiersin.org)
  • In a second familial ALS case, we identified a three-base pair deletion within exon 5 of the VAPB gene that deleted the serine residue at position 160 (Delta S160). (bvsalud.org)
  • 10 These factors are not mutually exclusive and include the purity and length of the repeated sequence, 7, 11 age of individuals, 6, 7 mitotic drive, 12 the relative position of the TNR with respect to adjacent origins of DNA replication, 13 and mutations in genes involved in DNA repair, replication, and recombination. (bmj.com)
  • To test this hypothesis, we analysed normal length TNR sequences at a single repeat resolution by radioactive PCR and denaturating polyacrylamide gels, using DNA from multiple single cell clones expanded in the presence or absence of mitomycin-C (MMC), a mutagenic agent able to induce interstrand DNA cross links, strand breaks, and replication blockage. (bmj.com)
  • Expansion in oocytes, which are non-dividing, would be consistent with a mechanism involving aberrant DNA repair or recombination rather than a problem with chromosomal replication. (frontiersin.org)
  • Understanding when and where expansion occurs during intergenerational transfer would help address a number of unresolved questions related to the unusual underlying mutation, including whether the expansion mechanism involves aberrant chromosomal replication or repair and why transmission of FM alleles, and thus FXS, only occurs on maternal transmission. (frontiersin.org)
  • Its molecular basis is an expansion of a CTG repeat in the 3′ untranslated region (UTR) of the DMPK gene on chromosome 19. (bmj.com)
  • Major sequence differences among the four specimens sequenced in this study were in the 5′ and 3′ ends of chromosome 6 and the gp60 region, largely the result of genetic recombination. (cdc.gov)
  • The sequence similarity among specimens of the two dominant outbreak subtypes and genetic recombination in chromosome 6, especially around the putative virulence determinant gp60 region, suggest that genetic recombination plays a potential role in the emergence of hyper-transmissible C. hominis subtypes. (cdc.gov)
  • OBJECTIVE: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). (bvsalud.org)
  • We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. (bvsalud.org)
  • As with many other tandemly repeated microsatellite sequences, pathogenic TNRs are highly unstable in both the somatic and germ cell lineage, leading to expansions and contractions in the length of the repeats in successive cell or individual generations. (bmj.com)
  • 31 Therefore, we have hypothesised that mutagenic stress could result in an induction of instability of unexpanded TNR sequences, leading to an increase in the frequency of spontaneously occurring contractions/expansions in repeat number. (bmj.com)
  • Additional expansions and a high frequency of large contractions are seen in two-cell stage embryos. (frontiersin.org)
  • The high degree of both expansions and contractions seen in early embryos may contribute to the high frequency of somatic mosaicism that is observed in humans. (frontiersin.org)
  • The number of trinucleotide repeats (TNRs) in most unaffected individuals is in the range of 5-35 repeats in DM1 and around 14-35 repeats in fragile X syndrome. (bmj.com)
  • Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ataxia, and Huntington's disease, most of which are caused by expansion of repeats at the DNA, RNA, or protein level. (wikipedia.org)
  • Another source of genome instability may be epigenetic or mutational reductions in expression of DNA repair genes. (wikipedia.org)
  • We have generated a mouse model of the FX PM that shows repeat instability reminiscent of what is seen in human PM carriers. (frontiersin.org)
  • However, pathogenic loci bear expanded alleles of up to several hundred or even thousand repeats in severe cases. (bmj.com)
  • In addition, much of the evidence for the mechanisms that are thought to produce repeat expansion in pathological TNRs are dismissed as irrelevant for normal alleles. (bmj.com)
  • Given the difficulty of replicating large CGG-repeat tracts, we speculate that very large expanded alleles may be prone to contract in the mitotically proliferating spermatagonial stem cells in men. (frontiersin.org)
  • We also monitored the effect of paternal age on the number of repeats added to alleles transmitted to their offspring. (frontiersin.org)
  • It is caused by an expansion of a CGG repeat in the 5′ UTR of the FMR1 gene. (bmj.com)
  • These genomes had complete synteny in gene organization and 96.86-97.0% and 99.72-99.83% nucleotide sequence similarities to the published genomes of C. parvum and C. hominis , respectively. (cdc.gov)
  • The high sequence conservation between C. parvum and C. hominis genomes and significant differences in copy numbers of MEDLE family secreted proteins and insulinase-like proteases indicate that telomeric gene duplications could potentially contribute to host expansion in C. parvum . (cdc.gov)
  • Together, this sequence represents 280 Mbp (roughly 1% of the loblolly pine genome) and one of the most comprehensive studies of repetitive elements and genes in a gymnosperm species. (plos.org)
  • Over 60% of the repetitive sequence consists of full or partial LTR (long terminal repeat) retrotransposons. (plos.org)
  • One of the most frequently used DNA markers in eucalypts since 1996 are microsatellites or simple sequence repeats (SSRs) (Byrne et al. (springeropen.com)
  • Probe Set ID Ref Seq Protein ID Signal Strength Name Gene Symbol Species Function Swiss-Prot ID Amino Acid Sequence 1367452_at NP_598278 7.9 small ubiquitin-related modifier 2 precursor Sumo2 Rattus norvegicus " Ubiquitin-like protein that can be covalently attached to proteins as a monomer or as a lysine-linked polymer. (nih.gov)
  • We also show that, in females, expansion occurs in the post-natal oocyte. (frontiersin.org)
  • A combination of homology and de novo methodologies were applied to identify both conserved and novel repeats. (plos.org)
  • Analyses of homology alignment and secondary structure predict that this deletion significantly alters the structure of VAPB, although a GFP-Delta S160 VAPB fusion protein demonstrates a wild-type subcellular localization. (bvsalud.org)
  • Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. (nih.gov)
  • To evaluate the origin and time since spreading of the 999del5 mutation in Iceland and in Finland, we constructed haplotypes with polymorphic markers within and flanking the BRCA2 gene in a set of 18 Icelandic and 10 Finnish 999del5 breast cancer families. (nih.gov)
  • These results suggest that MC delivery via microvesicles can mediate gene transfer to an extent that enables effective prodrug conversion and tumor cell death such that it comprises a promising approach to cancer therapy. (regenerativemedicine.net)
  • Several major insertions and deletions were seen between C. hominis and C. parvum genomes, involving mostly members of multicopy gene families near telomeres. (cdc.gov)
  • Thus, expansions in all three large HOXA13 polyalanine repeats can cause HFGS. (nih.gov)
  • Increased ploidy level and individual repeats in high copy number are common in angiosperms but are rarely seen in gymnosperms [4] , [5] . (plos.org)
  • Here we report additional families with expansions in the third repeat of 11 and 12 alanine residues, the latter being the largest expansion reported. (nih.gov)
  • Here we show in a mouse model that, in males, expansions are already present in primary spermatocytes with no additional expansions occurring in later stages of gametogenesis. (frontiersin.org)
  • Further changes in repeat number occur during embryogenesis resulting in individuals sometimes being highly mosaic. (frontiersin.org)
  • To determine the timing of expansion during maternal transmission, we examined the effect of maternal age on expansion size and monitored the difference between the repeat size in ova and in two-cell embryos after in vitro fertilization. (frontiersin.org)
  • To better understand when expansion occurs during paternal transmission in the FX PM mouse model, we monitored the repeat size in sperm and in different populations of immature male gametes. (frontiersin.org)