ArticleAmerican journal of human genetics2000
Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 118 papers, 1 of them a synthesis that pooled it.
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Who cites it
118 citing papers in PubMed, 1 synthesis or guideline pooled it, 382 citations in OpenAlex.
- DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis.International journal of legal medicine · 2006Guideline
- Screening of Y-chromosomal STR loci and development of a multiplex PCR system for paternal lineage identification in horses.Equine veterinary journal · 2026Article
- A family portrait of the genomic factors shaping tandem repeat mutagenesis.bioRxiv : the preprint server for biology · 2026Article
- CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats.BMC genomics · 2026Article
- A novel mathematical framework for pedigree-based calculation of Y-STR match probabilities.Scientific reports · 2025Article
- Review
- Improving the strategy to identify historical military remains: a literature review and Y-STR meta-analysis.Forensic sciences research · 2024Review
- The sequence of the repetitive motif influences the frequency of multistep mutations in Short Tandem Repeats.Scientific reports · 2023Article
- Revisiting informed consent in forensic genomics in light of current technologies and the times.International journal of legal medicine · 2023Article
- The mutational dynamics of short tandem repeats in large, multigenerational families.Genome biology · 2022Article
- Short Tandem Repeat Variation in theFrontiers in genetics · 2022Article
- Next generation sequencing of Y-STRs in father-son pairs and comparison with traditional capillary electrophoresis.Forensic sciences research · 2022Article
- Article
- Article
- Current genetic conservation of Chinese indigenous horses revealed with Y-chromosomal and mitochondrial DNA polymorphisms.G3 (Bethesda, Md.) · 2021Article
- Application of CPI cutoff value based on parentage testing of duos and trios typed by four autosomal kits.PloS one · 2019Article
- Haplotypic polymorphisms and mutation rate estimates of 22 Y-chromosome STRs in the Northern Chinese Han father-son pairs.Scientific reports · 2018Article
- Prostate cancer susceptibility and growth linked to Y chromosome genes.Frontiers in bioscience (Elite edition) · 2018Review
- Suppressed Recombination of Sex Chromosomes Is Not Caused by Chromosomal Reciprocal Translocation in Spiny Frog (Frontiers in genetics · 2018Article
- The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection.American journal of human genetics · 2017Article
58 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of applications of analysis of human Y-chromosome microsatellite loci to human evolution and forensic science require reliable estimates of the mutation rate and knowledge of the mutational mechanism. We therefore screened a total of 4,999 meioses from father/son pairs with confirmed paternity (probability >/=99. 9%) at 15 Y-chromosomal microsatellite loci and identified 14 mutations. The locus-specific mutation-rate estimates were 0-8. 58x10-3, and the average mutation rate estimates were 3.17x10-3 (95% confidence interval [CI] 1.89-4.94x10-3) across 8 tetranucleotide microsatellites and 2.80x10-3 (95% CI 1.72-4.27x10-3) across all 15 Y-chromosomal microsatellites studied. Our data show a mutational bias toward length increase, on the basis of observation of more repeat gains than losses (10:4). The data are in almost complete agreement with the stepwise-mutation model, with 13 single-repeat changes and 1 double-repeat change. Sequence analysis revealed that all mutations occurred in uninterrupted homogenous arrays of >/=11 repeats. We conclude that mutation rates and characteristics of human Y-chromosomal microsatellites are consistent with those of autosomal microsatellites. This indicates that the general mutational mechanism of microsatellites is independent of recombination.
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