Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation
dc.contributor.author | Kuroshima, Shoko | en_US |
dc.contributor.author | Palella, Thomas D. | en_US |
dc.contributor.author | Kamatani, Naoyuki | en_US |
dc.contributor.author | Hakoda, Masayuki | en_US |
dc.contributor.author | Hidaka, Yuji | en_US |
dc.date.accessioned | 2006-09-11T19:12:32Z | |
dc.date.available | 2006-09-11T19:12:32Z | |
dc.date.issued | 1990-10 | en_US |
dc.identifier.citation | Kamatani, Naoyuki; Kuroshima, Shoko; Hakoda, Masayuki; Palella, Thomas D.; Hidaka, Yuji; (1990). "Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation." Human Genetics 85(6): 600-604. <http://hdl.handle.net/2027.42/47628> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47628 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2227951&dopt=citation | en_US |
dc.description.abstract | Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and renal failure is present at a high frequency among the Japanese but not other ethnic groups. A special type of mutant allele, designated APRT*J , with a nucleotide substitution at codon 136 from ATG (Met) to ACG (Thr) is carried by approximately 79% of all Japanese 2,8-dihydroxyadenine urolithiasis patients. We analyzed mutant alleles of 39 APRT deficient patients using a specific oligonucleotide hybridization method after in vitro amplification of a part of the genomic APRT sequence. We found that 24 had only APRT*J alleles. Determination of the haplotypes of 194 APRT alleles from control Japanese subjects and of the 48 different APRT*J alleles indicated that normal alleles occur in four major haplotypes, whereas all APRT*J alleles occur in only two. These results suggest that all APRT*J alleles have a single origin and that this mutant sequence has been maintained for a long period, as calculated from the frequency of the recombinant alleles. | en_US |
dc.format.extent | 682671 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Human Genetics | en_US |
dc.title | Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan Medical Center, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan Medical Center, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan | en_US |
dc.contributor.affiliationother | Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan | en_US |
dc.contributor.affiliationother | Institute of Rheumatology, Tokyo Women's Medical College, 2-4-1 Nishi-shinjuku, Shinjuku-ku, 163, Tokyo, Japan | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 2227951 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47628/1/439_2004_Article_BF00193582.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00193582 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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