ArticleBMC genomics2009
Sequence determinants of human microsatellite variability.
Article in BMC genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed.
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- Short tandem repeats significantly contribute to the genetic architecture of metabolic and sensory age-related hearing loss phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
- The Application of Microsatellite Markers as Molecular Tools for Studying Genomic Variability in Vertebrate Populations.Current issues in molecular biology · 2025Review
- Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.bioRxiv : the preprint server for biology · 2025Article
- Sequencing and characterizing short tandem repeats in the human genome.Nature reviews. Genetics · 2024Review
- The sequence of the repetitive motif influences the frequency of multistep mutations in Short Tandem Repeats.Scientific reports · 2023Article
- Synchronous manifestation of colorectal cancer and intraductal papillary mucinous neoplasms.World journal of clinical cases · 2023Review
- Emergence of a "Cyclosome" in a Primitive Network Capable of Building "Infinite" Proteins.Life (Basel, Switzerland) · 2019Article
- Dot2dot: accurate whole-genome tandem repeats discovery.Bioinformatics (Oxford, England) · 2019Article
- A reference haplotype panel for genome-wide imputation of short tandem repeats.Nature communications · 2018Article
- Complex genetic patterns in human arise from a simple range-expansion model over continental landmasses.PloS one · 2018Article
- Characterization of Duck (Frontiers in genetics · 2018Article
- Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- CRISPR-Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis.Nature communications · 2017Article
- Long-Distance Dispersal Shaped Patterns of Human Genetic Diversity in Eurasia.Molecular biology and evolution · 2016Article
- Tandem repeat variation in human and great ape populations and its impact on gene expression divergence.Genome research · 2015Article
- Ancestry informative markers for distinguishing between Thai populations based on genome-wide association datasets.Legal medicine (Tokyo, Japan) · 2015Article
- Comparative analyses of genetic risk prediction methods reveal extreme diversity of genetic predisposition to nonalcoholic fatty liver disease (NAFLD) among ethnic populations of India.Journal of genetics · 2015Article
- Sequence differences at orthologous microsatellites inflate estimates of human-chimpanzee differentiation.BMC genomics · 2014Article
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4 authors.
Funding
Abstract
backgroundMicrosatellite loci are frequently used in genomic studies of DNA sequence repeats and in population studies of genetic variability. To investigate the effect of sequence properties of microsatellites on their level of variability we have analyzed genotypes at 627 microsatellite loci in 1,048 worldwide individuals from the HGDP-CEPH cell line panel together with the DNA sequences of these microsatellites in the human RefSeq database.
resultsCalibrating PCR fragment lengths in individual genotypes by using the RefSeq sequence enabled us to infer repeat number in the HGDP-CEPH dataset and to calculate the mean number of repeats (as opposed to the mean PCR fragment length), under the assumption that differences in PCR fragment length reflect differences in the numbers of repeats in the embedded repeat sequences. We find the mean and maximum numbers of repeats across individuals to be positively correlated with heterozygosity. The size and composition of the repeat unit of a microsatellite are also important factors in predicting heterozygosity, with tetra-nucleotide repeat units high in G/C content leading to higher heterozygosity. Finally, we find that microsatellites containing more separate sets of repeated motifs generally have higher heterozygosity.
conclusionsThese results suggest that sequence properties of microsatellites have a significant impact in determining the features of human microsatellite variability.
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