{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T00:40:52Z","timestamp":1790642452249,"version":"4.1.0"},"reference-count":47,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Evol Biol"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The autosomal dominant polycystic kidney disease (ADPKD) is mostly caused by mutations in the <jats:italic>PKD1<\/jats:italic> (polycystic kidney disease 1) gene located in 16p13.3. Moreover, there are six pseudogenes of <jats:italic>PKD1<\/jats:italic> that are located proximal to the master gene in 16p13.1. In contrast, no pseudogene could be detected in the mouse genome, only a single copy gene on chromosome 17. The question arises how the human situation originated phylogenetically. To address this question we applied comparative FISH-mapping of a human <jats:italic>PKD1<\/jats:italic>-containing genomic BAC clone and a <jats:italic>PKD1<\/jats:italic>-cDNA clone to chromosomes of a variety of primate species and the dog as a non-primate outgroup species.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Comparative FISH with the <jats:italic>PKD1<\/jats:italic>-cDNA clone clearly shows that in all primate species studied distinct single signals map in subtelomeric chromosomal positions orthologous to the short arm of human chromosome 16 harbouring the master <jats:italic>PKD1<\/jats:italic> gene. Only in human and African great apes, but not in orangutan, FISH with both BAC and cDNA clones reveals additional signal clusters located proximal of and clearly separated from the <jats:italic>PKD1<\/jats:italic> master genes indicating the chromosomal position of <jats:italic>PKD1<\/jats:italic> pseudogenes in 16p of these species, respectively. Indeed, this is in accordance with sequencing data in human, chimpanzee and orangutan. Apart from the master <jats:italic>PKD1<\/jats:italic> gene, six pseudogenes are identified in both, human and chimpanzee, while only a single-copy gene is present in the whole-genome sequence of orangutan. The phylogenetic reconstruction of the <jats:italic>PKD1<\/jats:italic>-tree reveals that all human pseudogenes are closely related to the human <jats:italic>PKD1<\/jats:italic> gene, and all chimpanzee pseudogenes are closely related to the chimpanzee <jats:italic>PKD1<\/jats:italic> gene. However, our statistical analyses provide strong indication that gene conversion events may have occurred within the <jats:italic>PKD1<\/jats:italic> family members of human and chimpanzee, respectively.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>\n              <jats:italic>PKD1<\/jats:italic> must have undergone amplification very recently in hominid evolution. Duplicative transposition of the <jats:italic>PKD1<\/jats:italic> gene and further amplification and evolution of the <jats:italic>PKD1<\/jats:italic> pseudogenes may have arisen in a common ancestor of <jats:italic>Homo<\/jats:italic>, <jats:italic>Pan<\/jats:italic> and <jats:italic>Gorilla<\/jats:italic> ~8 MYA. Reticulate evolutionary processes such as gene conversion and non-allelic homologous recombination (NAHR) may have resulted in concerted evolution of <jats:italic>PKD1<\/jats:italic> family members in human and chimpanzee and, thus, simulate an independent evolution of the <jats:italic>PKD1<\/jats:italic> pseudogenes from their master <jats:italic>PKD1<\/jats:italic> genes in human and chimpanzee.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2148-8-263","type":"journal-article","created":{"date-parts":[[2008,9,26]],"date-time":"2008-09-26T18:19:44Z","timestamp":1222453184000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Chromosomal evolution of the PKD1 gene family in primates"],"prefix":"10.1186","volume":"8","author":[{"given":"Stefan","family":"Kirsch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanjo","family":"Pasantes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bogdanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"M\u00fcnch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Pennekamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Krawczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Dworniczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Werner","family":"Schempp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,9,26]]},"reference":[{"key":"832_CR1","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/S0272-6386(12)80051-5","volume":"16","author":"PA Gabow","year":"1990","unstructured":"Gabow PA: Autosomal dominant polycystic kidney disease: more than a renal disease. 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