NDLI: Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression.

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Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Parker, K. L. Galbraith, L. J. White, P. C. Chaplin, D. D. Seidman, J. G.
Abstract	Steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10] is a cytochrome P-450 enzyme required for the adrenal synthesis of mineralocorticoids and glucocorticoids. The gene encoding this protein is present in two copies (21-OHase A and B) in the S region of the murine major histocompatibility complex. Previous studies utilizing gene-specific oligonucleotide probes and gene transfer showed that only the 21-OHase A gene is expressed in the BALB/c mouse. Here, we present the complete primary structures of both BALB/c 21-OHase encoding genes. Comparison of the nucleotide sequences defines a deletion of 215 nucleotides spanning the second exon of the 21-OHase B gene; other nucleotide changes in the 21-OHase B gene introduce frame shifts and premature termination codons. Southern blot analysis of C57BL/6 and DBA/2J mice indicates that a similar deletion is present in these strains; however the C3H/HeJ strain is a structural variant. A hybrid gene composed of the 21-OHase B promoter placed 5' of the 21-OHase A structural sequences was efficiently transcribed following transfection into Y1 adrenocortical tumor cells. These findings demonstrate that the 21-OHase B gene promoter is functional and suggest that mutations within the 21-OHase B structural gene are responsible for its lack of expression.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	24
Volume Number	83
Language	English
Publisher	National Academy of Sciences
Publisher Date	1986-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Steroid 21-Hydroxylase Genetics Steroid Hydroxylases Amino Acid Sequence Animals Chromosome Deletion Gene Expression Regulation Genes Mice Mutation Promoter Regions, Genetic Sequence Homology, Nucleic Acid Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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