{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:25:03Z","timestamp":1772252703880,"version":"3.50.1"},"reference-count":54,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FAPESP, Brazil","award":["2013\/07838-0"],"award-info":[{"award-number":["2013\/07838-0"]}]},{"name":"FAPESP, Brazil","award":["2014\/25602-6"],"award-info":[{"award-number":["2014\/25602-6"]}]},{"name":"FAPESP, Brazil","award":["303905\/2013-1"],"award-info":[{"award-number":["303905\/2013-1"]}]},{"name":"FAPESP, Brazil","award":["206445\/2014-8"],"award-info":[{"award-number":["206445\/2014-8"]}]},{"name":"CNPq, Brazil","award":["2013\/07838-0"],"award-info":[{"award-number":["2013\/07838-0"]}]},{"name":"CNPq, Brazil","award":["2014\/25602-6"],"award-info":[{"award-number":["2014\/25602-6"]}]},{"name":"CNPq, Brazil","award":["303905\/2013-1"],"award-info":[{"award-number":["303905\/2013-1"]}]},{"name":"CNPq, Brazil","award":["206445\/2014-8"],"award-info":[{"award-number":["206445\/2014-8"]}]},{"name":"CNPq postdoctoral fellowship","award":["2013\/07838-0"],"award-info":[{"award-number":["2013\/07838-0"]}]},{"name":"CNPq postdoctoral fellowship","award":["2014\/25602-6"],"award-info":[{"award-number":["2014\/25602-6"]}]},{"name":"CNPq postdoctoral fellowship","award":["303905\/2013-1"],"award-info":[{"award-number":["303905\/2013-1"]}]},{"name":"CNPq postdoctoral fellowship","award":["206445\/2014-8"],"award-info":[{"award-number":["206445\/2014-8"]}]},{"name":"CAPES (Brazil) MSc fellowship","award":["2013\/07838-0"],"award-info":[{"award-number":["2013\/07838-0"]}]},{"name":"CAPES (Brazil) MSc fellowship","award":["2014\/25602-6"],"award-info":[{"award-number":["2014\/25602-6"]}]},{"name":"CAPES (Brazil) MSc fellowship","award":["303905\/2013-1"],"award-info":[{"award-number":["303905\/2013-1"]}]},{"name":"CAPES (Brazil) MSc fellowship","award":["206445\/2014-8"],"award-info":[{"award-number":["206445\/2014-8"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The genetic contributions of Neanderthals to the modern human genome have been evidenced by the comparison of present-day human genomes with paleogenomes. Neanderthal signatures in extant human genomes are attributed to intercrosses between Neanderthals and archaic anatomically modern humans (AMHs). Although Neanderthal signatures are well documented in the nuclear genome, it has been proposed that there is no contribution of Neanderthal mitochondrial DNA to contemporary human genomes. Here we show that modern human mitochondrial genomes contain 66 potential Neanderthal signatures, or Neanderthal single nucleotide variants (N-SNVs), of which 36 lie in coding regions and 7 result in nonsynonymous changes. Seven N-SNVs are associated with traits such as cycling vomiting syndrome, Alzheimer\u2019s disease and Parkinson\u2019s disease, and two N-SNVs are associated with intelligence quotient. Based on recombination tests, principal component analysis (PCA) and the complete absence of these N-SNVs in 41 archaic AMH mitogenomes, we conclude that convergent evolution, and not recombination, explains the presence of N-SNVs in present-day human mitogenomes.<\/jats:p>","DOI":"10.3390\/ijms25073785","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T12:52:12Z","timestamp":1711630332000},"page":"3785","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Convergent Mutations and Single Nucleotide Variants in Mitochondrial Genomes of Modern Humans and Neanderthals"],"prefix":"10.3390","volume":"25","author":[{"given":"Renata C.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Center for Medical Bioinformatics, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039032, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camila R.","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Graduate Program in Microbiology and Immunology, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039032, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1197-0312","authenticated-orcid":false,"given":"James R.","family":"Broach","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Institute for Personalized Medicine, Pennsylvania State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8045-2477","authenticated-orcid":false,"given":"Marcelo R. S.","family":"Briones","sequence":"additional","affiliation":[{"name":"Center for Medical Bioinformatics, Federal University of S\u00e3o Paulo, S\u00e3o Paulo 04039032, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1126\/science.1188021","article-title":"A Draft Sequence of the Neandertal Genome","volume":"328","author":"Green","year":"2010","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Ko, K.H. (2016). Hominin interbreeding and the evolution of human variation. J. Biol. 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