Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/32314
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dc.contributor.authorBalaresque, Patricia-
dc.contributor.authorKing, Turi E.-
dc.contributor.authorParkin, Emma J.-
dc.contributor.authorHeyer, E.-
dc.contributor.authorCarvalho-Silva, D.-
dc.contributor.authorKraaijenbrink, T.-
dc.contributor.authorde Knijff, P.-
dc.contributor.authorTyler-Smith, C.-
dc.contributor.authorJobling, Mark A.-
dc.date.accessioned2015-05-28T14:59:26Z-
dc.date.available2015-05-28T14:59:26Z-
dc.date.issued2014-03-07-
dc.identifier.citationHuman Mutation, 2014, 35 (5), pp. 609-617en
dc.identifier.issn1059-7794-
dc.identifier.urihttp://onlinelibrary.wiley.com/doi/10.1002/humu.22542/abstracten
dc.identifier.urihttp://hdl.handle.net/2381/32314-
dc.descriptionPMCID: PMC4233959 Supplementary materials available via DOI: 10.1002/humu.22542en
dc.description.abstractThe male-specific region of the human Y chromosome (MSY) contains eight large inverted repeats (palindromes), in which high-sequence similarity between repeat arms is maintained by gene conversion. These palindromes also harbor microsatellites, considered to evolve via a stepwise mutation model (SMM). Here, we ask whether gene conversion between palindrome microsatellites contributes to their mutational dynamics. First, we study the duplicated tetranucleotide microsatellite DYS385a,b lying in palindrome P4. We show, by comparing observed data with simulated data under a SMM within haplogroups, that observed heteroallelic combinations in which the modal repeat number difference between copies was large, can give rise to homoallelic combinations with zero-repeats difference, equivalent to many single-step mutations. These are unlikely to be generated under a strict SMM, suggesting the action of gene conversion. Second, we show that the intercopy repeat number difference for a large set of duplicated microsatellites in all palindromes in the MSY reference sequence is significantly reduced compared with that for nonpalindrome-duplicated microsatellites, suggesting that the former are characterized by unusual evolutionary dynamics. These observations indicate that gene conversion violates the SMM for microsatellites in palindromes, homogenizing copies within individual Y chromosomes, but increasing overall haplotype diversity among chromosomes within related groups.en
dc.description.sponsorshipFunded by Wellcome Trust. Grant Number: 087576, 098051 AHRC EC Sixth Framework Programme. Grant Number: ERAS-CT-2003-980409 NWO (Netherlands Organisation for Scientific Research). Grant Number: 231-70-001en
dc.language.isoenen
dc.publisherWiley for Human Genome Variation Society, Wiley-Lissen
dc.relation.urihttp://www.ncbi.nlm.nih.gov/pubmed/24610746-
dc.rights© 2014 The Authors. *Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.en
dc.subjectDYS385en
dc.subjectY chromosomeen
dc.subjectgene conversionen
dc.subjectmicrosatelliteen
dc.subjectpalindromeen
dc.subjectstepwise mutation modelen
dc.subjectChromosomes, Human, Yen
dc.subjectGene Conversionen
dc.subjectHumansen
dc.subjectInverted Repeat Sequencesen
dc.subjectMicrosatellite Repeatsen
dc.subjectModels, Geneticen
dc.subjectMutationen
dc.titleGene conversion violates the stepwise mutation model for microsatellites in y-chromosomal palindromic repeats.en
dc.typeJournal Articleen
dc.identifier.doi10.1002/humu.22542-
dc.identifier.eissn1098-1004-
dc.description.statusPeer-revieweden
dc.description.versionPublisher Versionen
dc.type.subtypeJournal Article;Research Support, Non-U.S. Gov't-
pubs.organisational-group/Organisationen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGYen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Biological Sciencesen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/School of Biological Sciences/Department of Geneticsen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themesen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themes/Canceren
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themes/Genome Scienceen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themes/Populationen
pubs.organisational-group/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/Themes/RESULTen
Appears in Collections:Published Articles, Dept. of Genetics

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