{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T18:17:41Z","timestamp":1676657861298},"reference-count":81,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>To understand the evolution of human mental activity, we performed population genetic analyses of nucleotide sequences (\u223c11 kb) from a worldwide sample of 60 chromosomes of the N-acylsphingosine amidohydrolase (ASAH1) gene. ASAH1 hydrolyzes ceramides and regulates neuronal development, and its deficiency often results in mental retardation. In the region (\u223c4.4 kb) encompassing exons 3 and 4 of this gene, two distinct lineages (V and M) have been segregating in the human population for 2.4 \u00b1 0.4 million years (MY). The persistence of these two lineages is attributed to ancient population structure of humans in Africa. However, all haplotypes belonging to the V lineage exhibit strong linkage disequilibrium, a high frequency (62%), and small nucleotide diversity (\u03c0 = 0.05%). These features indicate a signature of positive Darwinian selection for the V lineage. Compared with the orthologs in mammals and birds, it is only Val at amino acid site 72 that is found exclusively in the V lineage in humans, suggesting that this Val is a likely target of positive selection. Computer simulation confirms that demographic models of modern humans except for the ancient population structure cannot explain the presence of two distinct lineages, and neutrality is incompatible with the observed small genetic variation of the V lineage at ASAH1. On the basis of the above observations, it is argued that positive selection is possibly operating on ASAH1 in the modern human population.<\/jats:p>","DOI":"10.1534\/genetics.107.083691","type":"journal-article","created":{"date-parts":[[2008,2,2]],"date-time":"2008-02-02T02:07:40Z","timestamp":1201918060000},"page":"1505-1515","source":"Crossref","is-referenced-by-count":14,"title":["Population Genetic Analysis of the <i>N<\/i>-Acylsphingosine Amidohydrolase Gene Associated With Mental Activity in Humans"],"prefix":"10.1093","volume":"178","author":[{"given":"Hie Lim","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Biosystems Science , The Graduate University for Advanced Studies (Sokendai), Hayama, Kanagawa 240-0193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Satta","sequence":"additional","affiliation":[{"name":"Department of Biosystems Science , The Graduate University for Advanced Studies (Sokendai), Hayama, Kanagawa 240-0193, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2008,3,1]]},"reference":[{"key":"2022110406165848800_BIB1","year":"1994"},{"key":"2022110406165848800_BIB2","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.5","volume":"17","year":"2001","journal-title":"Hum. Mutat."},{"key":"2022110406165848800_BIB3","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1086\/497613","volume":"77","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"2022110406165848800_BIB4","first-page":"263","volume":"15","year":"2005","journal-title":"Bioinformatics"},{"key":"2022110406165848800_BIB5","doi-asserted-by":"crossref","first-page":"9964","DOI":"10.1073\/pnas.0703877104","volume":"104","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB6","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/S1043-6618(03)00049-5","volume":"47","year":"2003","journal-title":"Pharmacol. Res."},{"key":"2022110406165848800_BIB7","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1023\/A:1020207613196","volume":"27","year":"2002","journal-title":"Neurochem. Res."},{"key":"2022110406165848800_BIB8","first-page":"172","volume":"313","year":"2006","journal-title":"Science"},{"key":"2022110406165848800_BIB9","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1007\/s10038-006-0019-z","volume":"51","year":"2006","journal-title":"J. Hum. Genet."},{"key":"2022110406165848800_BIB10","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1073\/pnas.012464099","volume":"99","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB11","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1038\/nature01025","volume":"418","year":"2002","journal-title":"Nature"},{"key":"2022110406165848800_BIB12","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1093\/hmg\/ddh126","volume":"13","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"2022110406165848800_BIB13","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1038\/sj.embor.7400208","volume":"5","year":"2004","journal-title":"EMBO Rep."},{"key":"2022110406165848800_BIB14","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.tcb.2005.04.006","volume":"15","year":"2005","journal-title":"Trends Cell Biol."},{"key":"2022110406165848800_BIB15","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.1126\/science.1069424","volume":"296","year":"2002","journal-title":"Science"},{"key":"2022110406165848800_BIB16","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/nrg1941","volume":"7","year":"2006","journal-title":"Nat. Rev. Genet."},{"key":"2022110406165848800_BIB17","doi-asserted-by":"crossref","first-page":"1849","DOI":"10.1534\/genetics.105.041095","volume":"170","year":"2005","journal-title":"Genetics"},{"key":"2022110406165848800_BIB18","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1093\/molbev\/msi013","volume":"22","year":"2005","journal-title":"Mol. Biol. Evol."},{"key":"2022110406165848800_BIB19","doi-asserted-by":"crossref","first-page":"3131","DOI":"10.1016\/S0021-9258(18)51879-2","volume":"238","year":"1963","journal-title":"J. Biol. Chem."},{"key":"2022110406165848800_BIB20","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1073\/pnas.022614799","volume":"99","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB21","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0025-5564(94)00044-Z","volume":"127","year":"1995","journal-title":"Math. Biosci."},{"key":"2022110406165848800_BIB22","doi-asserted-by":"crossref","first-page":"25847","DOI":"10.1074\/jbc.R200008200","volume":"277","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2022110406165848800_BIB23","doi-asserted-by":"crossref","first-page":"3320","DOI":"10.1073\/pnas.96.6.3320","volume":"96","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB24","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1534\/genetics.105.046995","volume":"172","year":"2006","journal-title":"Genetics"},{"key":"2022110406165848800_BIB25","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1126\/science.1067575","volume":"295","year":"2002","journal-title":"Science"},{"key":"2022110406165848800_BIB26","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1093\/bioinformatics\/18.2.337","volume":"18","year":"2002","journal-title":"Bioinformatics"},{"key":"2022110406165848800_BIB27","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/genetics\/116.1.153","volume":"116","year":"1987","journal-title":"Genetics"},{"key":"2022110406165848800_BIB28","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/BF00167113","volume":"40","year":"1995","journal-title":"J. Mol. Evol."},{"key":"2022110406165848800_BIB29","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/genetics\/166.2.835","volume":"166","year":"2004","journal-title":"Genetics"},{"key":"2022110406165848800_BIB30","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1038\/nature04226","volume":"437","year":"2005","journal-title":"Nature"},{"key":"2022110406165848800_BIB31","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1534\/genetics.105.043901","volume":"172","year":"2006","journal-title":"Genetics"},{"key":"2022110406165848800_BIB32","year":"1999"},{"key":"2022110406165848800_BIB33","year":"2002"},{"key":"2022110406165848800_BIB34","doi-asserted-by":"crossref","first-page":"33110","DOI":"10.1074\/jbc.271.51.33110","volume":"271","year":"1996","journal-title":"J. Biol. Chem."},{"key":"2022110406165848800_BIB35","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1093\/bib\/5.2.150","volume":"5","year":"2004","journal-title":"Brief. Bioinform."},{"key":"2022110406165848800_BIB36","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/genetics\/49.1.49","volume":"49","year":"1964","journal-title":"Genetics"},{"key":"2022110406165848800_BIB37","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/geno.1999.5940","volume":"62","year":"1999","journal-title":"Genomics"},{"key":"2022110406165848800_BIB38","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1126\/science.1109792","volume":"308","year":"2005","journal-title":"Science"},{"key":"2022110406165848800_BIB39","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1534\/genetics.166.1.351","volume":"166","year":"2004","journal-title":"Genetics"},{"key":"2022110406165848800_BIB40","doi-asserted-by":"crossref","first-page":"9381","DOI":"10.1073\/pnas.0510792103","volume":"103","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB41","doi-asserted-by":"crossref","first-page":"25843","DOI":"10.1074\/jbc.R200009200","volume":"277","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2022110406165848800_BIB42","first-page":"3","volume":"13","year":"2007","journal-title":"MRDD Res. Rev."},{"key":"2022110406165848800_BIB43","first-page":"277","volume":"7","year":"1955","journal-title":"Am. J. Hum. Genet."},{"key":"2022110406165848800_BIB44","year":"1995"},{"key":"2022110406165848800_BIB45","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1023\/A:1022047408477","volume":"25","year":"2002","journal-title":"J. Inherit. Metab. Dis."},{"key":"2022110406165848800_BIB46","year":"1983"},{"key":"2022110406165848800_BIB47","first-page":"418","volume":"3","year":"1986","journal-title":"Mol. Biol. Evol."},{"key":"2022110406165848800_BIB48","doi-asserted-by":"crossref","first-page":"5269","DOI":"10.1073\/pnas.76.10.5269","volume":"76","year":"1979","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB49","first-page":"240","volume":"37","year":"1993","journal-title":"J. Mol. Evol."},{"key":"2022110406165848800_BIB50","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/0006-291X(92)91518-U","volume":"189","year":"1992","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2022110406165848800_BIB51","doi-asserted-by":"crossref","first-page":"2496","DOI":"10.1093\/bioinformatics\/btg359","volume":"19","year":"2003","journal-title":"Bioinformatics"},{"key":"2022110406165848800_BIB52","year":"2000"},{"key":"2022110406165848800_BIB53","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S1043-6618(03)00050-1","volume":"47","year":"2003","journal-title":"Pharmacol. Res."},{"key":"2022110406165848800_BIB54","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/nature01140","volume":"419","year":"2002","journal-title":"Nature"},{"key":"2022110406165848800_BIB55","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1126\/science.1124309","volume":"312","year":"2006","journal-title":"Science"},{"key":"2022110406165848800_BIB56","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1038\/35057149","volume":"409","year":"2001","journal-title":"Nature"},{"key":"2022110406165848800_BIB57","first-page":"406","volume":"4","year":"1987","journal-title":"Mol. Biol. Evol."},{"key":"2022110406165848800_BIB58","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1046\/j.1365-294X.2003.02069.x","volume":"13","year":"2004","journal-title":"Mol. Ecol."},{"key":"2022110406165848800_BIB59","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1086\/502802","volume":"78","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"2022110406165848800_BIB60","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1136\/jmg.2006.046516","volume":"44","year":"2007","journal-title":"J. Med. Genet."},{"key":"2022110406165848800_BIB61","doi-asserted-by":"crossref","first-page":"2929","DOI":"10.1523\/JNEUROSCI.17-09-02929.1997","volume":"17","year":"1997","journal-title":"J. Neurosci."},{"key":"2022110406165848800_BIB62","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/ng1508","volume":"37","year":"2005","journal-title":"Nat. Genet."},{"key":"2022110406165848800_BIB63","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1086\/379378","volume":"73","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"2022110406165848800_BIB64","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/319501","volume":"68","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2022110406165848800_BIB65","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1126\/science.178.4065.1100","volume":"178","year":"1972","journal-title":"Science"},{"key":"2022110406165848800_BIB66","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/genetics\/123.3.585","volume":"123","year":"1989","journal-title":"Genetics"},{"key":"2022110406165848800_BIB67","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1073\/pnas.87.7.2419","volume":"87","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB68","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/genetics\/129.2.585","volume":"129","year":"1991","journal-title":"Genetics"},{"key":"2022110406165848800_BIB69","first-page":"2","volume":"10","year":"1993","journal-title":"Mol. Biol. Evol."},{"key":"2022110406165848800_BIB71","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1146\/annurev.es.26.110195.002015","volume":"26","year":"1995","journal-title":"Annu. Rev. Ecol. Syst."},{"key":"2022110406165848800_BIB73","doi-asserted-by":"crossref","first-page":"4876","DOI":"10.1093\/nar\/25.24.4876","volume":"25","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"2022110406165848800_BIB74","doi-asserted-by":"crossref","first-page":"18508","DOI":"10.1073\/pnas.0507325102","volume":"102","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB75","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1093\/hmg\/ddh127","volume":"13","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"2022110406165848800_BIB76","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1534\/genetics.105.040527","volume":"170","year":"2005","journal-title":"Genetics"},{"key":"2022110406165848800_BIB77","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1086\/515503","volume":"61","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"2022110406165848800_BIB78","doi-asserted-by":"crossref","first-page":"7882","DOI":"10.1073\/pnas.0502300102","volume":"102","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB79","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1371\/journal.pgen.0010041","volume":"1","year":"2005","journal-title":"PLoS Genet."},{"key":"2022110406165848800_BIB80","first-page":"370","volume":"316","year":"2007","journal-title":"Science"},{"key":"2022110406165848800_BIB81","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1093\/genetics\/165.4.2063","volume":"165","year":"2003","journal-title":"Genetics"},{"key":"2022110406165848800_BIB82","doi-asserted-by":"crossref","first-page":"3708","DOI":"10.1073\/pnas.95.7.3708","volume":"95","year":"1998","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2022110406165848800_BIB83","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1093\/genetics\/162.4.1825","volume":"162","year":"2002","journal-title":"Genetics"}],"container-title":["Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/genetics\/article-pdf\/178\/3\/1505\/46784331\/genetics1505.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/genetics\/article-pdf\/178\/3\/1505\/46784331\/genetics1505.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T06:18:14Z","timestamp":1667542694000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/genetics\/article\/178\/3\/1505\/6061491"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3,1]]},"references-count":81,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2008,3,1]]},"published-print":{"date-parts":[[2008,3,1]]}},"URL":"https:\/\/doi.org\/10.1534\/genetics.107.083691","relation":{},"ISSN":["1943-2631"],"issn-type":[{"value":"1943-2631","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2008,3,1]]},"published":{"date-parts":[[2008,3,1]]}}}