• 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)
  • human whole-genome. (scirp.org)
  • Our study improved the Gff genome assembly with whole genome 10× Chromium sequencing of a lab reared pupae, identified autosomal versus sex-chromosomal regions of the genome with ddRAD-seq data from 627 field caught Gff, and identified SNPs associated with trypanosome infection with genome-wide association (GWA) analysis in a subset of 351 flies. (bvsalud.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)
  • These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)
  • The availability of these novel microsatellite loci will help to better understand the population biology of G. brevipalpis and to assess the level of gene flow between different populations. (bvsalud.org)
  • Within DNA trinucleotide repeat sequences, the repair of DNA damage by the processes of homologous recombination, non-homologous end joining, DNA mismatch repair or base excision repair may involve strand slippage mispairing leading to trinucleotide repeat expansion when the repair is completed. (wikipedia.org)
  • Genomic regions with a high proportion of repeated DNA sequences (tandem repeats, microsatellites) are prone to strand slippage during DNA replication and DNA repair. (wikipedia.org)
  • An individual who is not affected by Huntington's disease will have 6-35 tandem repeats at the HD locus. (wikipedia.org)
  • The expansion of the HD locus results in a dysfunctional protein leading to Huntington's disease. (wikipedia.org)
  • La disponibilité de ces nouveaux locus microsatellites aidera à mieux comprendre la biologie des populations de G. brevipalpis et à évaluer le niveau de flux de gènes entre différentes populations. (bvsalud.org)
  • A slippage event normally occurs when a sequence of repetitive nucleotides (tandem repeats) are found at the site of replication. (wikipedia.org)
  • 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)
  • 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)
  • Results from 10× Chromium sequencing greatly improved Gff genome assembly metrics and assigned a full third of the genome to the sex chromosome. (bvsalud.org)
  • Tandem repeats are unstable regions of the genome where frequent insertions and deletions of nucleotides can take place, resulting in genome rearrangements. (wikipedia.org)
  • Insertions are thought to be self-accelerating: as repeats grow longer, the probability of subsequent mispairing events increases. (wikipedia.org)
  • Insertions can expand simple tandem repeats by one or more units. (wikipedia.org)
  • Tandem-Genotypes requires data preprocessing steps such as LAST alignment and establishment of a genomic background database, and histograms are needed to assist STR genotyping. (researchsquare.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)
  • If these repeats are found in coding regions then the variations to the polynucleotide sequence can result in the formation of abnormal proteins in eukaryotes. (wikipedia.org)
  • For example, insertion of a single repeat unit in GAGAGA expands the sequence to GAGAGAGA, while insertion of two repeat units in [GA]6 would produce [GA]8. (wikipedia.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)
  • CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
  • Therefore, replication slippage leads to a form of trinucleotide expansion which results in serious changes to protein structure. (wikipedia.org)
  • The newly synthesized strand then detaches from the template strand and pairs with another direct repeat upstream. (wikipedia.org)
  • The top associated SNP was â ¼1100 bp upstream of the gene lecithin cholesterol acyltransferase (LCAT), an important component of the molecular pathway that initiates trypanosome lysis and protection in mammals. (bvsalud.org)
  • This results in some repeats found in the template strand being replicated twice into the daughter strand. (wikipedia.org)
  • Tandem repeats (the main influence for slippage replication) can be found in coding and non-coding regions. (wikipedia.org)
  • The HD gene is found in all human genomes. (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)
  • In this study, we screened the genome of G. brevipalpis to search for suitable microsatellite markers and nine were found to be efficient enough to distinguish between different tsetse populations. (bvsalud.org)
  • However, an affected individual will have 36- 121 repeats present. (wikipedia.org)
  • In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
  • In the event that a slippage event occurs there can be a large expansion in the tandem repeats of the HD gene. (wikipedia.org)
  • NanoSTR can be used for STR detection and genotyping based on long-read data from nanopore sequencing with improved accuracy and efficiency compared with other existing methods, such as Tandem-Genotypes and TRiCoLOR. (researchsquare.com)
  • In long repeats, expansions may involve two or more units. (wikipedia.org)
  • The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.com)
  • Many human diseases have been reported to be associated with trinucleotide repeat expansions including Huntington's disease. (wikipedia.org)
  • These include spinal and bulbar muscular atrophy ( trinucleotide expansion in the AR gene), dentatorubral-pallidoluysian atrophy ( trinucleotide expansion in the DRPLA gene), spinocerebellar ataxia type 1 ( trinucleotide expansion in the SCA1gene), Machado-Joseph disease ( trinucleotide expansion in the SCA3 gene), myotonic dystrophy ( trinucleotide expansion in the DMPK gene), and Friedreich's ataxia ( a trinuncleotide expansion in the X25 gene). (wikipedia.org)
  • ease or are within disease genes. (scirp.org)
  • Microsatellites are commonly used to identify population structure and assess dispersal of the target populations and have been developed for several tsetse species but were lacking for Glossina brevipalpis. (bvsalud.org)
  • Slippage occurs through five main stages: In the first step, DNA polymerase encounters the direct repeat during the replication process. (wikipedia.org)
  • Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
  • Knowledge about population structure and level of gene flow between neighbouring populations of the target vector is of high importance to develop appropriate strategies for implementing effective management programmes. (bvsalud.org)
  • DNA polymerase reassembles its position on the template strand and resumes normal replication, but during the course of reassembling, the polymerase complex backtracks and repeats the insertion of deoxyribonucleotides that were previously added. (wikipedia.org)
  • La connaissance de la structure de la population et du niveau de flux de gènes entre les populations voisines du vecteur cible est d'une grande importance pour développer des stratégies appropriées pour la mise en Å uvre de programmes de gestion efficaces. (bvsalud.org)
  • Les microsatellites sont couramment utilisés pour identifier la structure de la population et évaluer la dispersion des populations cibles et ont été développés pour plusieurs espèces de glossines mais manquaient pour Glossina brevipalpis. (bvsalud.org)