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PMID: 6326107 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 81 ·No. 7 ·1984-04-00 ·Pages 2147-51

Melton DW, Konecki DS, Brennand J, Caskey CT

Abstract

The wild-type mouse hypoxanthine phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) gene has been isolated from genomic libraries and its structure has been determined. This X chromosome-linked gene is greater than 33 kilobases long and is split into nine exons. All the exon sequences have been determined, and a single-base substitution in the HPRT cDNA coding sequence from a mouse neuroblastoma cell line that overproduces a mutant HPRT protein has been identified. The 5' end of the gene has been defined, both by nuclease S1 protection and primer extension studies and by a functional assay in which an HPRT minigene, capable of expression in cultured cells, was created by ligating the 5' end of the gene onto wild-type human HPRT cDNA. Sequences normally associated with eukaryotic promoters are not present in the immediate 5'-flanking region of the HPRT gene, which is instead highly G+C rich. This observation is discussed in relation to the possible link between DNA methylation and X-chromosome inactivation.

MeSH Terms
Animals Base Sequence Cell Line Cloning, Molecular Cricetinae Cricetulus DNA/isolation & purification DNA Restriction Enzymes Embryo, Mammalian Genes Hypoxanthine Phosphoribosyltransferase/genetics Mice Mice, Inbred BALB C Mutation Neuroblastoma Nucleic Acid Hybridization
Chemicals
DNA Hypoxanthine Phosphoribosyltransferase DNA Restriction Enzymes
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Melton D W
Konecki D S
Brennand J
Caskey C T
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28 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.81.7.2147
Published
1984-04-00
Pages
2147-51
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC345454
Subset
IM
Grants
NIADDK NIH HHS · AM31428-O1 · United States
Databases
GENBANK
K01507, K01508, K01509, K01510, K01511, K01512, K01513, K01514, K01515
External Links
PubMed source DOI: 10.1073/pnas.81.7.2147 PMC Full Text View journal details
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