• An increase number of repeats of a genomic, tandemly repeated DNA sequence from one generation to the next. (uams.edu)
  • Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
  • Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
  • To estimate the genome-wide pattern of mutations at STR loci, we analyze blood-derived whole-genome sequencing data for 544 individuals from 29 three-generation CEPH pedigrees. (biomedcentral.com)
  • Approximately 30% of new STR mutations occur within Alu elements, which compose only 11% of the genome, but only 10% are found in LINE-1 insertions, which compose 17% of the genome. (biomedcentral.com)
  • We estimate the average number of de novo genome-wide STR mutations per individual to be approximately 85, which is similar to the average number of observed de novo single nucleotide variants. (biomedcentral.com)
  • Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
  • In cases of co-dominance, the genetic traits of both different alleles of the same gene-locus are clearly expressed in the phenotype. (wikipedia.org)
  • In the genes for the dog coat colours there are four alleles on the Agouti-locus. (wikipedia.org)
  • Although the allele "e" is a recessive allele on the extension-locus itself, the presence of two copies leverages the dominance of other coat colour genes. (wikipedia.org)
  • We searched the expressed sequence tag databank for reiterated trinucleotides and selected EST00493 (D2S196E) with 14 tandem ACA triplets as a potentially polymorphic locus. (scite.ai)
  • Analyzing approximately 1.6 million STR loci, we estimate the empirical de novo STR mutation rate to be 5.24 × 10 −5 mutations per locus per generation. (biomedcentral.com)
  • citation needed] In Mendelian inheritance, genes have only two alleles, such as a and A. Mendel consciously chose pairs of genetic traits, represented by two alleles for his inheritance experiments. (wikipedia.org)
  • In nature, such genes often exist in several different forms and are therefore said to have multiple alleles. (wikipedia.org)
  • An individual usually has only two copies of each gene, but many different alleles are often found within a population. (wikipedia.org)
  • A rabbit's coat color is determined by a single gene that has at least four different alleles. (wikipedia.org)
  • citation needed] Many other genes have multiple alleles, including the human genes for ABO blood type. (wikipedia.org)
  • citation needed] If one or more genes cannot be expressed because of another genetic factor hindering their expression, this epistasis can make it impossible even for dominant alleles on certain other gene-loci to have an effect on the phenotype. (wikipedia.org)
  • Size variation was readily detected, with four common alleles containing 12-15 repeats. (scite.ai)
  • It is possible that each of these mechanisms contributes to the high mutation rate of STRs, but strand slippage is the mechanism proposed for generating most observed mutations in STR loci [ 19 ]. (biomedcentral.com)
  • The observation of heteroduplex patterns in non-denaturing polyacrylamide gel electrophoresis (instead of the more commonly used denaturing gels) can thus be utilized to increase the informativeness of microsatellite polymorphisms by unraveling otherwise cryptic sequence variation. (scite.ai)
  • 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)
  • citation needed] When genes are located on the same chromosome and no crossing over took place before the segregation of the chromosomes into the gametes, the genetic traits will be inherited in connection, because of the genetic linkage. (wikipedia.org)
  • Domestic cats have a gene with a similar effect on the X-chromosome. (wikipedia.org)
  • The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
  • ease or are within disease genes. (scirp.org)
  • Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG tandem repeat expansions in the DMPK 3' untranslated region. (bvsalud.org)
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • from the mutation of a single gene. (scirp.org)
  • Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
  • Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
  • the background rate of point mutations [2]. (scirp.org)
  • In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
  • We use HipSTR to identify de novo STR mutations in the 2nd generation of these pedigrees and require transmission to the third generation for validation. (biomedcentral.com)
  • Participants from the baseline of the Bambuí Health Aging Study whose ApoE genes had been genotyped were selected for this study (N = 1406, aged 60-95 years). (scite.ai)
  • Mendel's principle of segregation of genes applies too, as in the F2-generation homozygous individuals with the phenotypes of the P-generation appear. (wikipedia.org)
  • Many human genes, including one for a protein that controls cholesterol levels in the blood, show co-dominance too. (wikipedia.org)
  • 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)
  • Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
  • CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
  • These expanded repeats are transcribed and produce toxic CUG RNAs that sequester and inhibit activities of the MBNL family of developmental RNA processing factors. (bvsalud.org)
  • Phasing these mutations to the parent of origin shows that parental transmission biases vary among families. (biomedcentral.com)
  • This graph shows the total number of publications written about "DNA Repeat Expansion" by people in UAMS Profiles by year, and whether "DNA Repeat Expansion" was a major or minor topic of these publications. (uams.edu)
  • To address the molecular and cellular events that lead to these pathological outcomes, we recently generated a mouse Dmpk CTG expansion knock-in model and identified choroid plexus epithelial cells as particularly affected by the expression of toxic CUG expansion RNAs. (bvsalud.org)
  • Below are the most recent publications written about "DNA Repeat Expansion" by people in Profiles over the past ten years. (uams.edu)
  • Chloroplast genome sizes vary slightly due to expansion and contraction of the IR region. (biomedcentral.com)
  • Objectives: Present study was conducted to study and compare the complete chloroplast sequence of G. thurberi, analyses of its genome structure, gene content and organization, repeat sequence and codon usage and comparison with two cultivated allotetraploid sequenced cotton species. (ijbiotech.com)
  • People with the heterozygous form of this gene produce two different forms of the protein, each with a different effect on cholesterol levels. (wikipedia.org)
  • Progressively more numbers of microsatellites are being linked to genes associated with adaptive and functional variations, therefore making their utility broader in genetic applications. (springeropen.com)
  • Similar studies in eucalypts may provide new insights into the genetic architecture of transcript-level variations and post transcriptional gene regulation. (springeropen.com)
  • In this study, we searched the human genome reference sequence and annotated exons (exome) for the presence of uninterrupted triplet repeat tracts composed of six or more repeated units. (nih.gov)
  • Surprisingly, many groups of genes that contain TNR types coding for different homo-amino acid tracts associate with the same transcription-related GO categories. (nih.gov)
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • In cases of co-dominance, the genetic traits of both different alleles of the same gene-locus are clearly expressed in the phenotype. (wikipedia.org)
  • citation needed] When genes are located on the same chromosome and no crossing over took place before the segregation of the chromosomes into the gametes, the genetic traits will be inherited in connection, because of the genetic linkage. (wikipedia.org)
  • citation needed] In Mendelian inheritance, genes have only two alleles, such as a and A. Mendel consciously chose pairs of genetic traits, represented by two alleles for his inheritance experiments. (wikipedia.org)
  • Eucalyptus genetic linkage maps generated with microsatellite loci were used successfully to identify quantitative trait loci (QTLs) for various economically important traits. (springeropen.com)
  • In addition to repeats, analysis of the coding region reported 23 full-length eukaryotic orthologous proteins (KOGS) and another 29 novel or orthologous genes. (plos.org)
  • Other expanded repeats can be translated into proteins containing a pathogenic stretch of repeated amino acids by a novel mechanism called repeat-associated non-AUG (RAN) translation [ 12 ], and these proteins could contain compositionally biased amino acids. (biomedcentral.com)
  • The singletones encode 79 proteins, 4 ribosomal RNA genes and 30 transfer RNA genes. (ijbiotech.com)
  • The result is that CpGs are relatively rare unless there is selective pressure to keep them or a region is not methylated for some other reason, perhaps having to do with the regulation of gene expression. (ucsc.edu)
  • In addition, these CP genomes showed variation in their inverted repeat regions (IR). (biomedcentral.com)
  • Most plastidic genomes have four regions, namely large single copy region (LSC, 80 Kb), small single copy region (SSC, 20 kb) and two inverted repeat regions (IR, 25 kb). (ijbiotech.com)
  • An individual usually has only two copies of each gene, but many different alleles are often found within a population. (wikipedia.org)
  • Although the allele "e" is a recessive allele on the extension-locus itself, the presence of two copies leverages the dominance of other coat colour genes. (wikipedia.org)
  • Many human genes, including one for a protein that controls cholesterol levels in the blood, show co-dominance too. (wikipedia.org)
  • Transplastomics have proved to be a powerful tool to improve the plant genetic architecture with high expression of the foreign protein, low risk of the pollen pollution (6) and no gene silencing. (ijbiotech.com)
  • Mutations in KRIT1, a protein initially identified based on a yeast two-hybrid interaction with the RAS-family GTPase RAP1A, are responsible for the development of the inherited vascular disorder cerebral cavernous malformations (CCM1). (nih.gov)
  • The unmasked version of the track displays potential CpG islands that exist in repeat regions and would otherwise not be visible in the repeat masked version. (ucsc.edu)
  • Increased ploidy level and individual repeats in high copy number are common in angiosperms but are rarely seen in gymnosperms [4] , [5] . (plos.org)
  • 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)
  • The common ancestors for the Icelandic families studied were estimated to trace back to 340-1000 years, not excluding the possibility that the mutation was brought to Iceland during the settlement of the country. (nih.gov)
  • The results may indicate a common ancient origin for the 999del5 mutation in Iceland and in Finland, but distinct mutational events cannot be ruled out. (nih.gov)