{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T13:21:22Z","timestamp":1793712082848,"version":"4.6.1"},"reference-count":41,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T00:00:00Z","timestamp":1727222400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100027284","name":"Baltimore Bar Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100027284","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32GM087237"],"award-info":[{"award-number":["T32GM087237"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019686","name":"Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019686","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014370","name":"Simons Foundation Autism Research Initiative","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017743","name":"Knobloch Family Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017743","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2024,11]]},"DOI":"10.1016\/j.ajhg.2024.09.005","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T10:40:42Z","timestamp":1728902442000},"page":"2530-2541","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Where is the boundary of the human pseudoautosomal region?"],"prefix":"10.1016","volume":"111","author":[{"given":"Daniel W.","family":"Bellott","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer F.","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Skaletsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik C.","family":"Owen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9920-3411","authenticated-orcid":false,"given":"David C.","family":"Page","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2024.09.005_bib1","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/133417b0","article-title":"Possibility of Incomplete Sex Linkage in Mammals","volume":"133","author":"Darlington","year":"1934","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib2","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/BF02982193","article-title":"The genetical and mechanical properties of the sex-chromosomes","volume":"29","author":"Koller","year":"1934","journal-title":"J.\u00a0Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib3","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF00274192","article-title":"Genetic homology and crossing over in the X and Y chromosomes of mammals","volume":"61","author":"Burgoyne","year":"1982","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib4","series-title":"Mechanisms of Gonadal Differentiation in Vertebrates","first-page":"35","article-title":"Expression of the 12E7 Antigen is Controlled Independently by Genes on the Human X and Y Chromosomes","author":"Goodfellow","year":"1983"},{"key":"10.1016\/j.ajhg.2024.09.005_bib5","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1126\/science.2877492","article-title":"A Pseudoautosomal Gene in Man","volume":"234","author":"Goodfellow","year":"1986","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.09.005_bib6","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1093\/hmg\/3.5.771","article-title":"The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes","volume":"3","author":"Kval\u00f8y","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/337081a0","article-title":"The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome","volume":"337","author":"Ellis","year":"1989","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib8","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/s41586-023-06425-6","article-title":"Assembly of 43 human Y chromosomes reveals extensive complexity and variation","volume":"621","author":"Hallast","year":"2023","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib9","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/317687a0","article-title":"Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal","volume":"317","author":"Cooke","year":"1985","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib10","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1038\/317692a0","article-title":"Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes","volume":"317","author":"Simmler","year":"1985","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib11","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/319291a0","article-title":"A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes","volume":"319","author":"Rouyer","year":"1986","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib12","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/0888-7543(87)90051-6","article-title":"Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes","volume":"1","author":"Page","year":"1987","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2024.09.005_bib13","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/S0888-7543(11)80003-0","article-title":"Genetic map of the human pseudoautosomal region reveals a high rate of recombination in female meiosis at the Xp telomere","volume":"18","author":"Henke","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2024.09.005_bib14","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/328273a0","article-title":"Mapping the limits of the human pseudoautosomal region and a candidate sequence for the male-determining gene","volume":"328","author":"Pritchard","year":"1987","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib15","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1016\/0092-8674(90)90501-5","article-title":"Evolution of the pseudoautosomal boundary in old world monkeys and great apes","volume":"63","author":"Ellis","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.09.005_bib16","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/344663a0","article-title":"Population structure of the human pseudoautosomal boundary","volume":"344","author":"Ellis","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib17","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1101\/gr.7156307","article-title":"A second-generation combined linkage-physical map of the human genome","volume":"17","author":"Matise","year":"2007","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2024.09.005_bib18","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1159\/000224639","article-title":"A New Sex-Specific Genetic Map of the Human Pseudoautosomal Regions (PAR1 and PAR2)","volume":"68","author":"Flaquer","year":"2009","journal-title":"Hum. Hered."},{"key":"10.1016\/j.ajhg.2024.09.005_bib19","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004503","article-title":"Recombination in the Human Pseudoautosomal Region PAR1","volume":"10","author":"Hinch","year":"2014","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib20","first-page":"423","article-title":"Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis?","volume":"55","author":"Schmitt","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib21","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1086\/302754","article-title":"Evidence for Heterogeneity in Recombination in the Human Pseudoautosomal Region: High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping","volume":"66","author":"Lien","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib22","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1126\/science.1229112","article-title":"Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing","volume":"338","author":"Lu","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.09.005_bib23","series-title":"An algorithm for progressive multiple alignment of sequences with insertions","first-page":"10557","volume":"102","author":"L\u00f6ytynoja","year":"2005"},{"key":"10.1016\/j.ajhg.2024.09.005_bib24","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1093\/sysbio\/syq010","article-title":"New algorithms and methods to estimate maximum-likelihood phylogenies: assessing the performance of PhyML 3.0","volume":"59","author":"Guindon","year":"2010","journal-title":"Syst. Biol."},{"key":"10.1016\/j.ajhg.2024.09.005_bib25","doi-asserted-by":"crossref","first-page":"3426","DOI":"10.1016\/j.cell.2022.08.004","article-title":"High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios","volume":"185","author":"Byrska-Bishop","year":"2022","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2024.09.005_bib26","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/nmeth.1923","article-title":"Fast gapped-read alignment with Bowtie 2","volume":"9","author":"Langmead","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2024.09.005_bib27","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map Format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2024.09.005_bib28","doi-asserted-by":"crossref","first-page":"2032","DOI":"10.1093\/bioinformatics\/btv098","article-title":"Sambamba: fast processing of NGS alignment formats","volume":"31","author":"Tarasov","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2024.09.005_bib29","article-title":"Haplotype-based variant detection from short-read sequencing","author":"Garrison","year":"2012","journal-title":"arXiv"},{"key":"10.1016\/j.ajhg.2024.09.005_bib30","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1009123","article-title":"A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar","volume":"18","author":"Garrison","year":"2022","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.ajhg.2024.09.005_bib31","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/s41586-020-2347-0","article-title":"Insights into Variation in Meiosis from 31,228 Human Sperm Genomes","volume":"583","author":"Bell","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib32","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1093\/nar\/27.2.573","article-title":"Tandem repeats finder: a program to analyze DNA sequences","volume":"27","author":"Benson","year":"1999","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2024.09.005_bib33","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0011147","article-title":"progressiveMauve: multiple genome alignment with gene gain, loss and rearrangement","volume":"5","author":"Darling","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2024.09.005_bib34","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1093\/bioinformatics\/18.3.502","article-title":"TREE-PUZZLE: Maximum Likelihood Phylogenetic Analysis Using Quartets and Parallel Computing","volume":"18","author":"Schmidt","year":"2002","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2024.09.005_bib35","series-title":"R: A Language and Environment for Statistical Computing","year":"2020"},{"key":"10.1016\/j.ajhg.2024.09.005_bib36","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1093\/bioinformatics\/bts091","article-title":"Unipro UGENE: a unified bioinformatics toolkit","volume":"28","author":"Okonechnikov","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2024.09.005_bib37","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/BF02102862","article-title":"Evolution of the master Alu gene(s)","volume":"33","author":"Shen","year":"1991","journal-title":"J.\u00a0Mol. Evol."},{"key":"10.1016\/j.ajhg.2024.09.005_bib38","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00439-014-1420-x","article-title":"Turner syndrome revisited: Review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss","volume":"133","author":"Hook","year":"2014","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2024.09.005_bib39","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1126\/science.286.5441.964","article-title":"Four Evolutionary Strata on the Human X Chromosome","volume":"286","author":"Lahn","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2024.09.005_bib40","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1038\/nature13206","article-title":"Mammalian Y Chromosomes Retain Widely Expressed Dosage-Sensitive Regulators","volume":"508","author":"Bellott","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2024.09.005_bib41","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1093\/molbev\/msx116","article-title":"TimeTree: A Resource for Timelines, Timetrees, and Divergence Times","volume":"34","author":"Kumar","year":"2017","journal-title":"Mol. Biol. Evol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929724003653?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929724003653?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T13:04:39Z","timestamp":1774616679000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929724003653"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":41,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["S0002929724003653"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2024.09.005","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.06.10.598234","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Where is the boundary of the human pseudoautosomal region?","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2024.09.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc. on behalf of American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}