Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this study, we have identified a novel mechanism of mutation involving translocation between the HPRT1 loci and other loci on the X chromosome. In HRT-25's cDNA obtained from a patient with Lesch-Nyhan syndrome, the upstream region of exon 3 was amplified, but the full-length region was not amplified. The use of 3' rapid amplification of cDNA ends polymerase chain reaction (3'RACE-PCR) for HRT-25 revealed part of intron 3 and an unknown sequence which have not identified the HPRT1 gene starting at the 3' end of exon 3. We analyzed HPRT1 genomic DNA in order to confirm the mutation with the unknown sequence in the genomic DNA. Unknown sequence compared through BLAST analysis of human genome (NCBI; http://www.ncbi.nlm.nih.gov/BLAST/) showed that at least 0.5 to 0.6-Mb telomeric to HPRT1 on chromosome Xq where located near LOC340581. This study provides the molecular basis for the involvement of genomic instability in germ cells.
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PMID:Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome. 1557 Dec 24

The enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) plays an important role in the purine salvage pathways. Full-length cDNA of swamp eel (Monopterus albus, the rice field eel) Hprt gene was obtained by the RACE method. The cDNA sequence was 1452 bp in length, which encoded a protein of 218 amino acids. Amino acid identities of Hprt between swamp eel and other vertebrates including human, mouse, chicken and zebrafish were more than 76.7%. Phylogenetic tree analysis based on the amino acid sequences showed that Hprt of swamp eel and zebrafish was in one clade. RT-PCR analysis showed ubiquitous expression pattern of swamp eel Hprt in adult tissues, suggesting that it has a constitutive function and is conserved during evolution.
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PMID:[Molecular cloning and expression analysis of swamp eel (Monopterus albus) Hprt]. 1681 29