Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees - PubMed

Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees

E Heyer et al. Hum Mol Genet. 1997 May.

Abstract

Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleotide repeat loci to screen 42 males who are descendants from 12 'founding fathers' by a total number of 213 generations. As a result, we were able to estimate an average chromosome Y tetranucleotide mutation frequency of 0.20% (95% CIL 0.05-0.55). This closely matches the often cited Weber and Wong estimate of 0.21% for a set of autosomal tetranucleotide repeats. Expanding the set of microsatellites with two more loci (a tri- and a penta-nucleotide repeat locus) an average chromosome Y microsatellite mutation frequency of 0.21% (95% CIL 0.06-0.49) was found. These estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes. This supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.

Similar articles

• Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs.

  Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A. Kayser M, et al. Am J Hum Genet. 2000 May;66(5):1580-8. doi: 10.1086/302905. Epub 2000 Apr 6. Am J Hum Genet. 2000. PMID: 10762544 Free PMC article.

• Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1.

  Jobling MA, Heyer E, Dieltjes P, de Knijff P. Jobling MA, et al. Hum Mol Genet. 1999 Oct;8(11):2117-20. doi: 10.1093/hmg/8.11.2117. Hum Mol Genet. 1999. PMID: 10484782

• Chromosome Y microsatellites: population genetic and evolutionary aspects.

  de Knijff P, Kayser M, Caglià A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M, Honda K, Jobling M, Krawczak M, Leim K, Meuser S, Meyer E, Oesterreich W, Pandya A, Parson W, Penacino G, Perez-Lezaun A, Piccinini A, Prinz M, Roewer L, et al. de Knijff P, et al. Int J Legal Med. 1997;110(3):134-49. doi: 10.1007/s004140050052. Int J Legal Med. 1997. PMID: 9228564

• Genealogical and evolutionary inference with the human Y chromosome.

  Stumpf MP, Goldstein DB. Stumpf MP, et al. Science. 2001 Mar 2;291(5509):1738-42. doi: 10.1126/science.291.5509.1738. Science. 2001. PMID: 11249819 Review.

• Forensic typing of short tandem repeat markers on the X and Y chromosomes.

  Diegoli TM. Diegoli TM. Forensic Sci Int Genet. 2015 Sep;18:140-51. doi: 10.1016/j.fsigen.2015.03.013. Epub 2015 Mar 25. Forensic Sci Int Genet. 2015. PMID: 25934544 Review.

Cited by

• Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals.

  Boattini A, Sarno S, Bini C, Pesci V, Barbieri C, De Fanti S, Quagliariello A, Pagani L, Ayub Q, Ferri G, Pettener D, Luiselli D, Pelotti S. Boattini A, et al. PLoS One. 2016 Nov 1;11(11):e0165678. doi: 10.1371/journal.pone.0165678. eCollection 2016. PLoS One. 2016. PMID: 27802306 Free PMC article.

• Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs.

  Lee HY, Park MJ, Chung U, Lee HY, Yang WI, Cho SH, Shin KJ. Lee HY, et al. Int J Legal Med. 2007 Mar;121(2):128-35. doi: 10.1007/s00414-006-0130-x. Epub 2006 Nov 15. Int J Legal Med. 2007. PMID: 17106736

• Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs.

  Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A. Kayser M, et al. Am J Hum Genet. 2000 May;66(5):1580-8. doi: 10.1086/302905. Epub 2000 Apr 6. Am J Hum Genet. 2000. PMID: 10762544 Free PMC article.

• A short tandem repeat-based phylogeny for the human Y chromosome.

  Forster P, Röhl A, Lünnemann P, Brinkmann C, Zerjal T, Tyler-Smith C, Brinkmann B. Forster P, et al. Am J Hum Genet. 2000 Jul;67(1):182-96. doi: 10.1086/302953. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827105 Free PMC article.

• Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study.

  Sánchez-Diz P, Alves C, Carvalho E, Carvalho M, Espinheira R, García O, Pinheiro MF, Pontes L, Porto MJ, Santapa O, Silva C, Sumita D, Valente S, Whittle M, Yurrebaso I, Carracedo A, Amorim A, Gusmão L; GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics). Sánchez-Diz P, et al. Int J Legal Med. 2008 Nov;122(6):529-33. doi: 10.1007/s00414-008-0265-z. Epub 2008 Jul 24. Int J Legal Med. 2008. PMID: 18651159

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Silverchair Information Systems

• Research Materials

  • NCI CPTC Antibody Characterization Program