Cloning of the human cholesterol 7α-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12

Jonathan C. Cohen; James J. Cali; Diane F. Jelinek; Margarete Mehrabian; Robert S. Sparkes; Aldons J. Lusis; David W. Russell; Helen H. Hobbs

doi:10.1016/S0888-7543(05)80298-8

Cloning of the human cholesterol 7α-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12

Jonathan C. Cohen, James J. Cali, Diane F. Jelinek, Margarete Mehrabian, Robert S. Sparkes, Aldons J. Lusis, David W. Russell, Helen H. Hobbs

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Abstract

Cholesterol 7α-hydroxylase (7α-hydroxylase) is a microsomal cytochrome P450 that catalyzes the first step in bile acid synthesis. In this paper, we describe the cloning, characterization, and chromosomal mapping of the human 7α-hydroxylase gene (CYP7). The gene spans 10 kb and contains six exons and five introns. The exon-intron boundaries are completely conserved between the human and rat genes. Sequencing of the 5′ flanking region revealed consensus recognition sequences for a number of liver-specific transcription factors. The human CYP7 gene was mapped to chromosome 8q11-q12 using both mouse-human somatic cell hybrids and in situ chromosomal hybridization studies. A total of four single-stranded conformation-dependent DNA polymorphisms and an Alu sequence-related polymorphism were identified. Of the individuals analyzed, 80% were heterozygous for at least one of these five polymorphisms. The localization and characterization of the human 7α-hydroxylase gene, as well as the identification of polymorphisms, provide the molecular tools necessary to investigate the role of this gene in disorders of cholesterol and bile acid metabolism.

Original language	English (US)
Pages (from-to)	153-161
Number of pages	9
Journal	Genomics
Volume	14
Issue number	1
DOIs	https://doi.org/10.1016/S0888-7543(05)80298-8
State	Published - Sep 1992

ASJC Scopus subject areas

Genetics

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10.1016/S0888-7543(05)80298-8

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@article{01ff3f44126b4549bd97925e5da3d151,

title = "Cloning of the human cholesterol 7α-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12",

abstract = "Cholesterol 7α-hydroxylase (7α-hydroxylase) is a microsomal cytochrome P450 that catalyzes the first step in bile acid synthesis. In this paper, we describe the cloning, characterization, and chromosomal mapping of the human 7α-hydroxylase gene (CYP7). The gene spans 10 kb and contains six exons and five introns. The exon-intron boundaries are completely conserved between the human and rat genes. Sequencing of the 5′ flanking region revealed consensus recognition sequences for a number of liver-specific transcription factors. The human CYP7 gene was mapped to chromosome 8q11-q12 using both mouse-human somatic cell hybrids and in situ chromosomal hybridization studies. A total of four single-stranded conformation-dependent DNA polymorphisms and an Alu sequence-related polymorphism were identified. Of the individuals analyzed, 80% were heterozygous for at least one of these five polymorphisms. The localization and characterization of the human 7α-hydroxylase gene, as well as the identification of polymorphisms, provide the molecular tools necessary to investigate the role of this gene in disorders of cholesterol and bile acid metabolism.",

author = "Cohen, {Jonathan C.} and Cali, {James J.} and Jelinek, {Diane F.} and Margarete Mehrabian and Sparkes, {Robert S.} and Lusis, {Aldons J.} and Russell, {David W.} and Hobbs, {Helen H.}",

note = "Funding Information: We thank Kristine Cala, Anh Diep, Ivana Klisak, Ping-Zi Wen, and Yurong Xia for technical assistance. This research was supported by grants from the National Institutes of Health (HL-30568, HL-29252, and HL-20948), the Robert A. Welch Foundation (I-0971), the Perot Family Foundation, the Laubisch Fund, and the Cigarette and Tobacco Surtax Fund of the State of California through the Tobacco Related Disease Research Program at the University of California. Helen H. Hobbs is an Established Investigator of the American Heart Association.",

year = "1992",

month = sep,

doi = "10.1016/S0888-7543(05)80298-8",

language = "English (US)",

volume = "14",

pages = "153--161",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "1",

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T1 - Cloning of the human cholesterol 7α-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12

AU - Cohen, Jonathan C.

AU - Cali, James J.

AU - Jelinek, Diane F.

AU - Mehrabian, Margarete

AU - Sparkes, Robert S.

AU - Lusis, Aldons J.

AU - Russell, David W.

AU - Hobbs, Helen H.

N1 - Funding Information: We thank Kristine Cala, Anh Diep, Ivana Klisak, Ping-Zi Wen, and Yurong Xia for technical assistance. This research was supported by grants from the National Institutes of Health (HL-30568, HL-29252, and HL-20948), the Robert A. Welch Foundation (I-0971), the Perot Family Foundation, the Laubisch Fund, and the Cigarette and Tobacco Surtax Fund of the State of California through the Tobacco Related Disease Research Program at the University of California. Helen H. Hobbs is an Established Investigator of the American Heart Association.

PY - 1992/9

Y1 - 1992/9

N2 - Cholesterol 7α-hydroxylase (7α-hydroxylase) is a microsomal cytochrome P450 that catalyzes the first step in bile acid synthesis. In this paper, we describe the cloning, characterization, and chromosomal mapping of the human 7α-hydroxylase gene (CYP7). The gene spans 10 kb and contains six exons and five introns. The exon-intron boundaries are completely conserved between the human and rat genes. Sequencing of the 5′ flanking region revealed consensus recognition sequences for a number of liver-specific transcription factors. The human CYP7 gene was mapped to chromosome 8q11-q12 using both mouse-human somatic cell hybrids and in situ chromosomal hybridization studies. A total of four single-stranded conformation-dependent DNA polymorphisms and an Alu sequence-related polymorphism were identified. Of the individuals analyzed, 80% were heterozygous for at least one of these five polymorphisms. The localization and characterization of the human 7α-hydroxylase gene, as well as the identification of polymorphisms, provide the molecular tools necessary to investigate the role of this gene in disorders of cholesterol and bile acid metabolism.

AB - Cholesterol 7α-hydroxylase (7α-hydroxylase) is a microsomal cytochrome P450 that catalyzes the first step in bile acid synthesis. In this paper, we describe the cloning, characterization, and chromosomal mapping of the human 7α-hydroxylase gene (CYP7). The gene spans 10 kb and contains six exons and five introns. The exon-intron boundaries are completely conserved between the human and rat genes. Sequencing of the 5′ flanking region revealed consensus recognition sequences for a number of liver-specific transcription factors. The human CYP7 gene was mapped to chromosome 8q11-q12 using both mouse-human somatic cell hybrids and in situ chromosomal hybridization studies. A total of four single-stranded conformation-dependent DNA polymorphisms and an Alu sequence-related polymorphism were identified. Of the individuals analyzed, 80% were heterozygous for at least one of these five polymorphisms. The localization and characterization of the human 7α-hydroxylase gene, as well as the identification of polymorphisms, provide the molecular tools necessary to investigate the role of this gene in disorders of cholesterol and bile acid metabolism.

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Cloning of the human cholesterol 7α-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12

Abstract

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