{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T15:56:36Z","timestamp":1696607796761},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:label \/><jats:p>The human X\/autosome translocation, designated KOP, was discovered by Dr. Philip D. Pallister in Montana in 1967 in a young man with apparent Klinefelter syndrome. Collaboratively it was possible to elucidate the genetic nature of his unprecedented chromosome rearrangement and its developmental effects in mother and son. In retrospect, these clinical and genetic studies at the height of the somatic cell genetics era (Ruddle, Siniscalco, etc.) presented human genetics with a highly productive opportunity to begin gene mapping of autosomes and the X chromosome. The late Victor McKusick considered the discovery of the KOP translocation, as he determined personally in Montana, one of the major transforming events in human genetics. The Perrault syndrome evaluated in two families in Montana and one in Sicily for familial deafness, primary amenorrhea and neurologic impairment (progressive in some), turned out to be heterogeneous. In the \u201chands\u201d of Dr. M.\u2010C. King of Seattle four forms of Perrault syndrome have been identified. The autosomal recessive mutation present in the P family studied with Dr. Pallister in Helena, turned out to affect the mitochondrial histidyl tRNA synthetase gene present in prokaryotes, annelids, fungi and mammals, hence, must already have been present in LUCA some 3.8 billion years ago. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31420","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T21:21:57Z","timestamp":1416950517000},"page":"387-396","source":"Crossref","is-referenced-by-count":3,"title":["Serendipity or prepared mind? Recollections of the KOP translocation (1967) and of one form of Perrault syndrome"],"prefix":"10.1002","volume":"166","author":[{"given":"John M.","family":"Opitz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,25]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"14","volume-title":"Fourth international congress of human genetics","author":"Allderdice PW","year":"1971"},{"key":"e_1_2_8_3_1","first-page":"133","volume-title":"Was ist Leben","author":"Amann R","year":"2012"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.69.1.69"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00385732"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.013"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1083853"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06617"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.850784"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130464"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130465"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.025"},{"key":"e_1_2_8_13_1","unstructured":"PallisterPD OpitzJM.1978. The KOP translocation. Birth Defects: Original Article Series XIV (6C)."},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040306"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.007"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1103471108"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1093\/genetics\/74.4.661","article-title":"Assignment of three loci (PGK, HGPRT, G6PD) to the long arm of the human X chromosome by somatic cell genetics","volume":"74","author":"Ricciuti F","year":"1973","journal-title":"Genetics"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/newbio241180a0"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/newbio232069a0"},{"key":"e_1_2_8_20_1","first-page":"12425921\u20108","article-title":"The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution","volume":"342","author":"Ryan JF","year":"2013","journal-title":"Science"},{"key":"e_1_2_8_21_1","first-page":"205","article-title":"Somatic cell hybrids as tools for genetic studies in man","volume":"9","author":"Siniscalco M","year":"1970","journal-title":"Symp Int Soc Cell Biol"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31420","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T11:25:07Z","timestamp":1694604307000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,25]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/ajmg.c.31420"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31420","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,25]]}}}