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Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes

Lindgren, V, Luskey, K L, Russell, D W, Francke, U·1985·Proceedings of the National Academy of Sciences
DOI 10.1073/pnas.82.24.8567
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Abstract

Cellular cholesterol metabolism is regulated primarily through the coordinate expression of two proteins, the low density lipoprotein (LDL) receptor and 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase (EC 1.1.1.34). We have used cDNA probes for the human genes encoding these proteins to determine the precise chromosomal location of the two loci. By in situ hybridization we have regionally mapped the LDL receptor gene, LDLR, to the short arm of chromosome 19 in bands p13.1-p13.3. This result concurs with and extends a previous study in which LDLR was mapped to chromosome 19 by screening somatic cell hybrids with a species-specific monoclonal antibody. We have assigned the HMG-CoA reductase gene, HMGCR, to chromosome 5 by Southern blotting of DNA from a somatic cell hybrid panel and to bands 5q13.3-q14 by in situ hybridizations of the cDNA probe to human metaphase cells with normal and rearranged chromosomes.

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  • The human LDLR gene is located on chromosome 19, spans approximately 45 kb, and consists of 18 exons and 17 introns.

    “The human LDLR gene, located on chromosome 19, spans approximately 45kb consisting of 18 exons and 17 introns18.”

    From Pathways and Molecular Mechanisms Governing LDL Receptor Regulation (2025) · cites this paper as [18]

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Research works printed but not linked: 41

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Metadata

Authors
Lindgren, V, Luskey, K. L., Russell, D. W., & Francke, U.
Venue
Proceedings of the National Academy of Sciences
Publisher
National Academy of Sciences
Published
1985-12
Volume
82
Issue
24
Pages
8567-8571
ISSN
  • 0027-8424
  • 1091-6490
DOI
10.1073/pnas.82.24.8567
Cited by
96
References
0
Language
en

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