Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX - PubMed (original) (raw)
Comparative Study
doi: 10.1038/ng918. Epub 2002 Jun 24.
Affiliations
- PMID: 12089524
- DOI: 10.1038/ng918
Comparative Study
Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX
Celia A May et al. Nat Genet. 2002 Jul.
Abstract
Crossover between the human sex chromosomes during male meiosis is restricted to the terminal pseudoautosomal pairing regions. An obligatory exchange occurs in PAR1, an Xp/Yp pseudoautosomal region of 2.6 Mb, which creates a male-specific recombination 'hot domain' with a recombination rate that is about 20 times higher than the genome average. Low-resolution analysis of PAR1 suggests that crossovers are distributed fairly randomly. By contrast, linkage disequilibrium (LD) and sperm crossover analyses indicate that crossovers in autosomal regions tend to cluster into 'hot spots' of 1-2 kb that lie between islands of disequilibrium of tens to hundreds of kilobases. To determine whether at high resolution this autosomal pattern also applies to PAR1, we have examined linkage disequilibrium over an interval of 43 kb around the gene SHOX. Here we show that in northern European populations, disequilibrium decays rapidly with physical distance, which is consistent with this interval of PAR1 being recombinationally active in male meiosis. Analysis of a subregion of 9.9 kb in sperm shows, however, that crossovers are not distributed randomly, but instead cluster into an intense recombination hot spot that is very similar in morphology to autosomal hot spots. Thus, PAR1 crossover activity may be influenced by male-specific hot spots that are highly suitable for characterization by sperm DNA analysis.
Similar articles
- Human recombination hot spots hidden in regions of strong marker association.
Jeffreys AJ, Neumann R, Panayi M, Myers S, Donnelly P. Jeffreys AJ, et al. Nat Genet. 2005 Jun;37(6):601-6. doi: 10.1038/ng1565. Epub 2005 May 8. Nat Genet. 2005. PMID: 15880103 - Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex.
Jeffreys AJ, Kauppi L, Neumann R. Jeffreys AJ, et al. Nat Genet. 2001 Oct;29(2):217-22. doi: 10.1038/ng1001-217. Nat Genet. 2001. PMID: 11586303 - Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot.
Jeffreys AJ, Neumann R. Jeffreys AJ, et al. Nat Genet. 2002 Jul;31(3):267-71. doi: 10.1038/ng910. Epub 2002 Jun 24. Nat Genet. 2002. PMID: 12089523 - The human pseudoautosomal regions: a review for genetic epidemiologists.
Flaquer A, Rappold GA, Wienker TF, Fischer C. Flaquer A, et al. Eur J Hum Genet. 2008 Jul;16(7):771-9. doi: 10.1038/ejhg.2008.63. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398439 Review. - The pseudoautosomal regions, SHOX and disease.
Blaschke RJ, Rappold G. Blaschke RJ, et al. Curr Opin Genet Dev. 2006 Jun;16(3):233-9. doi: 10.1016/j.gde.2006.04.004. Epub 2006 May 2. Curr Opin Genet Dev. 2006. PMID: 16650979 Review.
Cited by
- Evolutionary dynamics of the human pseudoautosomal regions.
Monteiro B, Arenas M, Prata MJ, Amorim A. Monteiro B, et al. PLoS Genet. 2021 Apr 19;17(4):e1009532. doi: 10.1371/journal.pgen.1009532. eCollection 2021 Apr. PLoS Genet. 2021. PMID: 33872316 Free PMC article. - A comprehensive microsatellite landscape of human Y-DNA at kilobase resolution.
Li D, Pan S, Zhang H, Fu Y, Peng Z, Zhang L, Peng S, Xu F, Huang H, Shi R, Zheng H, Peng Y, Tan Z. Li D, et al. BMC Genomics. 2021 Jan 22;22(1):76. doi: 10.1186/s12864-021-07389-5. BMC Genomics. 2021. PMID: 33482734 Free PMC article. - Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region.
Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T. Fukami M, et al. Genome Biol Evol. 2020 Nov 3;12(11):1961-1964. doi: 10.1093/gbe/evaa168. Genome Biol Evol. 2020. PMID: 32785664 Free PMC article. - Recombination hotspots in an extended human pseudoautosomal domain predicted from double-strand break maps and characterized by sperm-based crossover analysis.
Poriswanish N, Neumann R, Wetton JH, Wagstaff J, Larmuseau MHD, Jobling MA, May CA. Poriswanish N, et al. PLoS Genet. 2018 Oct 8;14(10):e1007680. doi: 10.1371/journal.pgen.1007680. eCollection 2018 Oct. PLoS Genet. 2018. PMID: 30296256 Free PMC article. - The impact of recombination on human mutation load and disease.
Alves I, Houle AA, Hussin JG, Awadalla P. Alves I, et al. Philos Trans R Soc Lond B Biol Sci. 2017 Dec 19;372(1736):20160465. doi: 10.1098/rstb.2016.0465. Philos Trans R Soc Lond B Biol Sci. 2017. PMID: 29109227 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Research Materials
Miscellaneous