Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists. (wikipedia.org)
Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
Mutations8
Other microsatellites are located in regulatory flanking or intronic regions of genes, or directly in codons of genes - microsatellite mutations in such cases can lead to phenotypic changes and diseases, notably in triplet expansion diseases such as fragile X syndrome and Huntington's disease. (wikipedia.org)
citation needed] Unlike point mutations, which affect only a single nucleotide, microsatellite mutations lead to the gain or loss of an entire repeat unit, and sometimes two or more repeats simultaneously. (wikipedia.org)
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)
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)
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)
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)
Mutation rate2
Thus, the mutation rate at microsatellite loci is expected to differ from other mutation rates, such as base substitution rates. (wikipedia.org)
The mutation rate at microsatellite loci depends on the repeat motif sequence, the number of repeated motif units and the purity of the canonical repeated sequence. (wikipedia.org)
Putative2
A putative function has been assigned, using the gene ontology approach, to the set of genes harboring at least one SSR. (researchgate.net)
in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)
Alleles2
Size variation was readily detected, with four common alleles containing 12-15 repeats. (scite.ai)
multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)
STRs2
Due to the repetitive structure of STRs and their high mutability, sequencing and genotyping these loci is difficult, especially using short-read sequencing data. (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)
Motifs5
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5-50 times. (wikipedia.org)
1992). A microsatellite is a tract of tandemly repeated (i.e. adjacent) DNA motifs that range in length from one to six or up to ten nucleotides (the exact definition and delineation to the longer minisatellites varies from author to author), and are typically repeated 5-50 times. (wikipedia.org)
Repeat units of four and five nucleotides are referred to as tetra- and pentanucleotide motifs, respectively. (wikipedia.org)
Similarly, insects have shorter repeat motifs in their telomeres that could arguably be considered microsatellites. (wikipedia.org)
A total of 4,761 perfect and 6,583 imperfect SSRs were present in 3,781 genes (14.11% of the total), corresponding to an overall density across the gene space of 32,5 and 44,9 SSRs/Mbp for perfect and imperfect motifs, respectively. (researchgate.net)
Genome3
Microsatellites occur at thousands of locations within an organism's genome. (wikipedia.org)
Microsatellites are distributed throughout the genome. (wikipedia.org)
The human genome for example contains 50,000-100,000 dinucleotide microsatellites, and lesser numbers of tri-, tetra- and pentanucleotide microsatellites. (wikipedia.org)
SSRs1
The SSRs were categorized for the numbers of repeats present, their overall length and were allocated to their linkage group. (researchgate.net)
The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)
Genetic correlations between loci on different chromosomes can be high and can generate false positive linkage. (nervenet.org)
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)
Further studies are needed to determine if recovery from this perturbation through gradual mixing of diverged populations by migration and gene flow leads to the pre-climate event state, or whether the observed changes represent a new genetic equilibrium. (biomedcentral.com)
genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
19892
Although the first microsatellite was characterised in 1984 at the University of Leicester by Weller, Jeffreys and colleagues as a polymorphic GGAT repeat in the human myoglobin gene, the term "microsatellite" was introduced later, in 1989, by Litt and Luty. (wikipedia.org)
Recombinant inbred (RI) strains have been used to map a wide range of Mendelian loci and quantitative traits (Taylor, 1989). (nervenet.org)
Indeed, mutation detection enhancement gel electrophoresis of mixed PCR products from cloned haplotypes revealed 24 distinct heteroduplex patterns for the six possible trinucleotide heterozygotes. (scite.ai)
Imperfect1
Perfect repeats mutate about 2 × more often than imperfect repeats. (biomedcentral.com)
Chromosome1
The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
For example, the sequence TATATATATA is a dinucleotide microsatellite, and GTCGTCGTCGTCGTC is a trinucleotide microsatellite (with A being Adenine, G Guanine, C Cytosine, and T Thymine). (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)
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)
scolymus) has been used to catalog the genome's content of simple sequence repeat (SSR) markers. (researchgate.net)
Heterozygosity1
We found that population turnover after 2003 led to a loss of allelic richness and gene diversity but not to significant changes in observed heterozygosity. (biomedcentral.com)
Detect1
We provide two-locus correlograms that can be used to detect and correct for non-syntenic association and to reduce error rates in QTL mapping studies that exploit RI strains. (nervenet.org)
Populations3
These populations originated from a common ancestor, and a rapid demographic expansion began approximately 90,000 years ago. (biomedcentral.com)
In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)
Slatkin [ 4 ] argued that local extinction and re-colonisation dynamics imply ongoing gene flow, which will prevent local populations from becoming differentiated. (biomedcentral.com)
Density1
In this study we have increased the density of microsatellite markers 2- to 5-fold in each of several major RI sets that share C57BL/6 as a parental strain (AXB, BXA, BXD, BXH, and CXB). (nervenet.org)
Marker2
Pseudomolecules as well as unmapped scaffolds were used for the bulk mining of SSR markers and for the construction of the first globe artichoke microsatellite marker database. (researchgate.net)
Typically, only 13 loci are needed to have high statistical power to distinguish among individuals [ 17 ]. (biomedcentral.com)
Context1
Apolipoprotein E (ApoE) is one of the most extensively studied genes in the context of aging, but there are few population-based studies on ApoE polymorphism in the elderly in developing countries. (scite.ai)
Diseases1
Long expansions of transcribed trinucleotide microsatellites have been etiologically associated with some neurological diseases. (scite.ai)
Difficult1
It seems difficult to imagine that so many loci in A. thaliana have experienced balancing selection via heterozygote advantage [ 22 ]. (biomedcentral.com)
Single3
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)
Using either a single affected subject per family or all affected subjects, evidence for excess transmission was found by the Transmission Disequilibrium Test for rs2056202, rs2292813, and a two-locus G*G haplotype. (neurotransmitter.net)
control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)
Specific1
xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)
High1
A set of 490 markers that were typed in all constituent RI sets were used as anchor loci to assemble high-resolution framework maps. (nervenet.org)
Approximately1
The final consensus maps are based on 1578 microsatellite loci and these maps have a cumulative length of approximately 1400 cM after adjustment for recombination frequencies of RI strains. (nervenet.org)
Longer1
Microsatellites and their longer cousins, the minisatellites, together are classified as VNTR (variable number of tandem repeats) DNA. (wikipedia.org)
Developmental1
the gene encoding the monolignol biosynthetic enzyme cinnamyl alcohol dehydrogenase (cad, e.c. 1.1.1.195) can be expressed in response to different developmental and environmental cues. (liverpool.ac.uk)
Study2
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)
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
Found1
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)
Provide1
A database, called "Cynara cardunculus MicroSatellite DataBase" (CyMSatDB) was developed to provide a searchable interface to the SSR data. (researchgate.net)
Complex1
lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)