A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon
dc.contributor.author | Davidson, Beverly L. | en_US |
dc.contributor.author | Golovoy, Nimrod | en_US |
dc.contributor.author | Roessler, Blake J. | en_US |
dc.date.accessioned | 2006-09-11T19:13:05Z | |
dc.date.available | 2006-09-11T19:13:05Z | |
dc.date.issued | 1994-03 | en_US |
dc.identifier.citation | Davidson, Beverly L.; Golovoy, Nimrod; Roessler, Blake J.; (1994). "A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon." Human Genetics 93(3): 300-304. <http://hdl.handle.net/2027.42/47636> | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47636 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8125482&dopt=citation | en_US |
dc.description.abstract | More than 50 mutations in the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) locus have been described, yet only 2 alter the AUG initiation codon. One, variant HPRT 1151 , results in Lesch-Nyhan syndrome (LNS), and the other, HPRT Illinois , results in partial HPRT deficiency. Although previously undetectable, we used a sensitive gel assay to demonstrate that HPRT Illinois is not only active, but has a native Mr indistinguishable from normal. Confirmatory evidence of activity and native Mr is demonstrated following transfection of HPRT cells with expression plasmids containing cDNA sequences representing HPRT Illinois . These data provide support for the hypothesis that patient RT, or variant HPRT Illinois , is spared manifestations of the LNS as a result of translation at the newly formed GUG initiation codon. | en_US |
dc.format.extent | 725758 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 | Metabolic Diseases | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Biomedicine | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.title | A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon | 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, Division of Rheumatology, University of Michigan, 48109-0680, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, Division of Rheumatology, University of Michigan, 48109-0680, Ann Arbor, MI, USA; Department of Internal Medicine, University of Michigan, 1150 West Medical Center Drive, 5520 Medical Science Research Building I, Box 0680, 48109-0680, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, Division of Rheumatology, University of Michigan, 48109-0680, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 8125482 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47636/1/439_2004_Article_BF00212027.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00212027 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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