ArticleCurrent biology : CB2009
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.
Article in Current biology : CB, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers.
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Who cites it
109 citing papers in PubMed.
- Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.Human genetics · 2026Article
- Genome-wide annotation of human multi-nucleotide variants reveals widespread functional differences from single nucleotide variants.Nature communications · 2026Article
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- Y Chromosome Haplogroups and Susceptibility to Esophageal Squamous Cell Carcinoma: An Exploratory Association and Diagnostic Modeling Study.Molecular genetics & genomic medicine · 2026Article
- Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.Nature communications · 2026Article
- Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis.Genome biology · 2025Article
- Exploring Y-chromosomal STRs and SNPs for forensic and genetic insights in the Jiangsu Han population.BMC genomics · 2025Article
- Investigating the paternal genetic structure and migration history of Chinese Qiang minority by Y-chromosome short tandem repeats.Royal Society open science · 2025Article
- How Have Massively Parallel Sequencing Technologies Furthered Our Understanding of Oncogenesis and Cancer Progression?Methods in molecular biology (Clifton, N.J.) · 2025Review
- A new era of mutation rate analyses: Concepts and methods.Zoological research · 2024Review
- Genetic evidence points to distinct paternal settlers of the Faroe Islands and Iceland.Frontiers in genetics · 2024Article
- Prenatal folic acid and vitamin BCommunications biology · 2023Article
- Systematic Exploration of SARS-CoV-2 Adaptation to Vero E6, Vero E6/TMPRSS2, and Calu-3 Cells.Genome biology and evolution · 2023Article
- Mutations in microRNA-128-2-3p identified with amplification-free hybridization assay.PloS one · 2023Article
- Validation of phylogenetic informative Y-InDels in Y-chromosomal haplogroup O-M175.Frontiers in genetics · 2023Article
- MPYS Modulates Fatty Acid Metabolism and Immune Tolerance at Homeostasis Independent of Type I IFNs.Journal of immunology (Baltimore, Md. : 1950) · 2022Article
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- Identification and Characterization of Polymorphisms in piRNA Regions.Current issues in molecular biology · 2022Article
- Proposed mechanism for rare thrombotic events after use of some Covid-19 vaccines.Medical hypotheses · 2022Article
49 more citing papers are in PubMed but not listed here.
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16 authors.
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Abstract
Understanding the key process of human mutation is important for many aspects of medical genetics and human evolution. In the past, estimates of mutation rates have generally been inferred from phenotypic observations or comparisons of homologous sequences among closely related species. Here, we apply new sequencing technology to measure directly one mutation rate, that of base substitutions on the human Y chromosome. The Y chromosomes of two individuals separated by 13 generations were flow sorted and sequenced by Illumina (Solexa) paired-end sequencing to an average depth of 11x or 20x, respectively. Candidate mutations were further examined by capillary sequencing in cell-line and blood DNA from the donors and additional family members. Twelve mutations were confirmed in approximately 10.15 Mb; eight of these had occurred in vitro and four in vivo. The latter could be placed in different positions on the pedigree and led to a mutation-rate measurement of 3.0 x 10(-8) mutations/nucleotide/generation (95% CI: 8.9 x 10(-9)-7.0 x 10(-8)), consistent with estimates of 2.3 x 10(-8)-6.3 x 10(-8) mutations/nucleotide/generation for the same Y-chromosomal region from published human-chimpanzee comparisons depending on the generation and split times assumed.
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