Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1β gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

Susan M. Zneimer; Kim S. Lau; Roger L. Eddy; Thomas B. Shows; Jacinta L. Chuang; David T. Chuang; Rody P. Cox

doi:10.1016/0888-7543(91)90458-Q

Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1β gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

Susan M. Zneimer, Kim S. Lau, Roger L. Eddy, Thomas B. Shows, Jacinta L. Chuang, David T. Chuang, Rody P. Cox

Research output: Contribution to journal › Article › peer-review

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Abstract

Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain α-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (M_r 4 × 10⁶) consisting of at least six distinct subunits. In this study, the human E1β gene (BCKDHB) has been localized to human chromosome 6 by hybrid somatic cell analysis, and regionally assigned to chromosome bands 6p21-22 by in situ hybridization. The E2 gene (DBT), which was previously localized to chromosome 1, is regionally assigned to the chromosome band 1p31 also by in situ hybridization. Localization of the E1β gene to chromosome 6p21-22 assigns another major human disease locus to a region that contains several important genes, including the major histocompatability complex, tumor necrosis factor, and heat-shock protein HSP70. Mapping of the E1β and the E2 genes may provide information for the linkage analysis of MSUD families with mutations in these two loci.

Original language	English (US)
Pages (from-to)	740-747
Number of pages	8
Journal	Genomics
Volume	10
Issue number	3
DOIs	https://doi.org/10.1016/0888-7543(91)90458-Q
State	Published - Jul 1991

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Genetics

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10.1016/0888-7543(91)90458-Q

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@article{d2931b6380dc40dc865898d0972b3958,

title = "Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1β gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31",

abstract = "Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain α-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (Mr 4 × 106) consisting of at least six distinct subunits. In this study, the human E1β gene (BCKDHB) has been localized to human chromosome 6 by hybrid somatic cell analysis, and regionally assigned to chromosome bands 6p21-22 by in situ hybridization. The E2 gene (DBT), which was previously localized to chromosome 1, is regionally assigned to the chromosome band 1p31 also by in situ hybridization. Localization of the E1β gene to chromosome 6p21-22 assigns another major human disease locus to a region that contains several important genes, including the major histocompatability complex, tumor necrosis factor, and heat-shock protein HSP70. Mapping of the E1β and the E2 genes may provide information for the linkage analysis of MSUD families with mutations in these two loci.",

author = "Zneimer, {Susan M.} and Lau, {Kim S.} and Eddy, {Roger L.} and Shows, {Thomas B.} and Chuang, {Jacinta L.} and Chuang, {David T.} and Cox, {Rody P.}",

note = "Funding Information: sistance in the chromosome preparations. This work was supported by Grants DK 26758, GM 20454, and HD 05196 from the National Institutes of Health, Grant 1-1149 from the March of Dimes Birth Defects Foundation, and Grant 90G-093 from the American Heart Association, Texas Affiliate, Inc.",

year = "1991",

month = jul,

doi = "10.1016/0888-7543(91)90458-Q",

language = "English (US)",

volume = "10",

pages = "740--747",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

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TY - JOUR

T1 - Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex

T2 - The E1β gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

AU - Zneimer, Susan M.

AU - Lau, Kim S.

AU - Eddy, Roger L.

AU - Shows, Thomas B.

AU - Chuang, Jacinta L.

AU - Chuang, David T.

AU - Cox, Rody P.

N1 - Funding Information: sistance in the chromosome preparations. This work was supported by Grants DK 26758, GM 20454, and HD 05196 from the National Institutes of Health, Grant 1-1149 from the March of Dimes Birth Defects Foundation, and Grant 90G-093 from the American Heart Association, Texas Affiliate, Inc.

PY - 1991/7

Y1 - 1991/7

N2 - Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain α-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (Mr 4 × 106) consisting of at least six distinct subunits. In this study, the human E1β gene (BCKDHB) has been localized to human chromosome 6 by hybrid somatic cell analysis, and regionally assigned to chromosome bands 6p21-22 by in situ hybridization. The E2 gene (DBT), which was previously localized to chromosome 1, is regionally assigned to the chromosome band 1p31 also by in situ hybridization. Localization of the E1β gene to chromosome 6p21-22 assigns another major human disease locus to a region that contains several important genes, including the major histocompatability complex, tumor necrosis factor, and heat-shock protein HSP70. Mapping of the E1β and the E2 genes may provide information for the linkage analysis of MSUD families with mutations in these two loci.

AB - Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain α-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (Mr 4 × 106) consisting of at least six distinct subunits. In this study, the human E1β gene (BCKDHB) has been localized to human chromosome 6 by hybrid somatic cell analysis, and regionally assigned to chromosome bands 6p21-22 by in situ hybridization. The E2 gene (DBT), which was previously localized to chromosome 1, is regionally assigned to the chromosome band 1p31 also by in situ hybridization. Localization of the E1β gene to chromosome 6p21-22 assigns another major human disease locus to a region that contains several important genes, including the major histocompatability complex, tumor necrosis factor, and heat-shock protein HSP70. Mapping of the E1β and the E2 genes may provide information for the linkage analysis of MSUD families with mutations in these two loci.

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Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1β gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

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