{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T06:47:23Z","timestamp":1781246843319,"version":"3.54.1"},"reference-count":70,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry for University and Research (MUR) grant PRIN 2020","award":["2020J84FAM"],"award-info":[{"award-number":["2020J84FAM"]}]},{"name":"Italian Ministry for University and Research (MUR) grant PRIN 2020","award":["HG002385"],"award-info":[{"award-number":["HG002385"]}]},{"name":"Italian Ministry for University and Research (MUR) grant PRIN 2020","award":["HG010169"],"award-info":[{"award-number":["HG010169"]}]},{"name":"National Institutes of Health (NIH)","award":["2020J84FAM"],"award-info":[{"award-number":["2020J84FAM"]}]},{"name":"National Institutes of Health (NIH)","award":["HG002385"],"award-info":[{"award-number":["HG002385"]}]},{"name":"National Institutes of Health (NIH)","award":["HG010169"],"award-info":[{"award-number":["HG010169"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot of recurrent copy number variation associated with Prader\u2013Willi\/Angelman syndromes, developmental delay, autism, and epilepsy and is mediated by complex segmental duplications, many of which arose recently during evolution. To gain insight into the instability of this region, we characterized its architecture in human and nonhuman primates, reconstructing the evolutionary history of five different inversions that rearranged the region in different species primarily by accumulation of segmental duplications. Comparative analysis of human and nonhuman primate duplication structures suggests a human-specific gain of directly oriented duplications in the regions flanking the GOLGA cores and HERC segmental duplications, representing potential genomic drivers for the human-specific expansions. The increasing complexity of segmental duplication organization over the course of evolution underlies its association with human susceptibility to recurrent disease-associated rearrangements.<\/jats:p>","DOI":"10.3390\/ijms242115818","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T11:16:27Z","timestamp":1698750987000},"page":"15818","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus"],"prefix":"10.3390","volume":"24","author":[{"given":"Annalisa","family":"Paparella","sequence":"first","affiliation":[{"name":"Department of Biosciences, Biotechnology and Environment, University of Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5995-2001","authenticated-orcid":false,"given":"Alberto","family":"L\u2019Abbate","sequence":"additional","affiliation":[{"name":"Institute of Biomembranes, Bioenergetics, and Molecular Biotechnology (IBIOM), 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Palmisano","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnology and Environment, University of Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerardina","family":"Chirico","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnology and Environment, University of Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8414-8966","authenticated-orcid":false,"given":"David","family":"Porubsky","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2166-723X","authenticated-orcid":false,"given":"Claudia R.","family":"Catacchio","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnology and Environment, University of Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7762-8777","authenticated-orcid":false,"given":"Mario","family":"Ventura","sequence":"additional","affiliation":[{"name":"Department of Biosciences, Biotechnology and Environment, University of Bari \u201cAldo Moro\u201d, 70125 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA"},{"name":"Howard Hughes Medical Institute (HHMI), University of Washington, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6832-9388","authenticated-orcid":false,"given":"Flavia A. 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