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)
YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
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)
The SSRs were categorized for the numbers of repeats present, their overall length and were allocated to their linkage group. (researchgate.net)
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)
We report these two new plastid genome sequences and make comparisons (within angiosperms, seed plants, or all photosynthetic lineages) to evaluate features such as the status of ycf15 and ycf68 as protein coding genes, the distribution of simple sequence repeats (SSRs) and longer dispersed repeats (SDR), and patterns of nucleotide composition. (biomedcentral.com)
In broader comparisons, SSRs vary among genomes in terms of abundance and length and most contain repeat motifs based on A and T nucleotides. (biomedcentral.com)
SSRs occur less frequently than predicted and, although the majority of the repeat motifs do include A and T nucleotides, the A+T bias in SSRs is less than that predicted from the underlying genomic nucleotide composition. (biomedcentral.com)
Mutations4
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)
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)
Tandemly repeated1
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)
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)
Genetic5
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)
Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)
The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)
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)
genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
Nucleotide1
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)
Genome5
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)
Many are located in non-coding parts of the human genome and therefore do not produce proteins, but they can also be located in regulatory regions and coding regions. (wikipedia.org)
In the majority of angiosperm chloroplast genomes two copies of a large inverted repeat (IR) of about 25 kb separate the remainder of the genome into two regions of unique DNA, the large (about 90 kb) and small (about 20 kb) single copy regions (LSC and SSC, respectively). (biomedcentral.com)
Candidate genes1
Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
Alleles5
One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.com)
multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)
Genomic1
two genes preferentially expressed in differentiating xylem of loblolly pine (pinus taeda l.) were cloned from cdna and genomic libraries and designated ptx3h6 and ptx14a9. (liverpool.ac.uk)
Genomes3
of tandem repeats within their genomes [6, 17]. (scirp.org)
The Nuphar [GenBank:NC_008788] and Ranunculus [GenBank:NC_008796] plastid genomes share characteristics of gene content and organization with many other chloroplast genomes. (biomedcentral.com)
Like other plastid genomes, these genomes are A+T-rich, except for rRNA and tRNA genes. (biomedcentral.com)
Motifs3
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)
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)
Populations1
These populations originated from a common ancestor, and a rapid demographic expansion began approximately 90,000 years ago. (biomedcentral.com)
Marker1
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)
Sequence2
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)
scolymus) has been used to catalog the genome's content of simple sequence repeat (SSR) markers. (researchgate.net)
Species1
Most eukaryotes have microsatellites, with the notable exception of some yeast species. (wikipedia.org)
Evolution1
The pattern of evolution in the sequences identified as ycf15 and ycf68 is not consistent with them being protein-coding genes. (biomedcentral.com)
Single1
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)
Found2
Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)
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)
Regions1
The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
Present1
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
Show1
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)
Longer1
Microsatellites and their longer cousins, the minisatellites, together are classified as VNTR (variable number of tandem repeats) DNA. (wikipedia.org)
Autism2
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)
Expression1
xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)
Prominent early applications include the identifications by microsatellite genotyping of the eight-year-old skeletal remains of a British murder victim (Hagelberg et al. (wikipedia.org)
Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
Large1
Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
Properties1
a loblolly pine (pinus taeda l.) cdna with properties of a nonspecific lipid transfer protein (nsltp) is reported. (liverpool.ac.uk)
Complex1
lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)