Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor)
dc.contributor.author | Hidaka, Yuji | en_US |
dc.contributor.author | Davidson, Beverly L. | en_US |
dc.contributor.author | Kelley, William N. | en_US |
dc.contributor.author | Palella, Thomas D. | en_US |
dc.contributor.author | Fujimori, Shin | en_US |
dc.date.accessioned | 2006-09-11T19:12:06Z | |
dc.date.available | 2006-09-11T19:12:06Z | |
dc.date.issued | 1988-05 | en_US |
dc.identifier.citation | Fujimori, Shin; Hidaka, Yuji; Davidson, Beverly L.; Palella, Thomas D.; Kelley, William N.; (1988). "Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor) ." Human Genetics 79(1): 39-43. <http://hdl.handle.net/2027.42/47622> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47622 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=2896620&dopt=citation | en_US |
dc.description.abstract | HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in two brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was characterized by an increased K m for both substrates, a normal V max , a decreased intracellular concentration of enzyme protein, a normal subunit molecular weight and an acidic isoelectric point under native isoelectric focusing conditions. We have cloned a full-length cDNA for HPRT Ann Arbor and determined its complete nucleotide sequence. A single nucleotide change (T→G) at nucleotide position 396 has been identified. This transversion predicts an amino acid substitution from isoleucine (ATT) to methionine (ATG) in codon 132, which is located within the putative 5′-phosphoribosyl-1-pyrophosphate (PRPP)-binding site of HPRT. | en_US |
dc.format.extent | 667333 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 | Biomedicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.title | Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor) | 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, 1150 West Medical Center Drive, 5520 Medical Science Research Building I, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, 1150 West Medical Center Drive, 5520 Medical Science Research Building I, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Biological Chemistry, University of Michigan, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, 1150 West Medical Center Drive, 5520 Medical Science Research Building I, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, 1150 West Medical Center Drive, 5520 Medical Science Research Building I, 48109, Ann Arbor, MI, USA; Department of Biological Chemistry, University of Michigan, 48109, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 2896620 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47622/1/439_2004_Article_BF00291707.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00291707 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.