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PMID: 2897160 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

American journal of human genetics ·Vol. 42 ·No. 6 ·1988-06-00 ·Pages 839-46

Ledley FD, Lumetta MR, Zoghbi HY, VanTuinen P, Ledbetter SA, Ledbetter DH

Abstract

Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain fatty acids. Deficiency of this apoenzyme causes the mut form of methylmalonic acidemia, an often fatal disorder of organic acid metabolism. An MCM cDNA has recently been obtained from human liver cDNA libraries. This clone has been used as a probe to determine the chromosomal location of the MCM gene and MUT locus. Southern blot analysis of DNA from human-hamster somatic-cell hybrid cell lines assigned the locus to region q12-p23 of chromosome 6. In situ hybridization further localized the locus to the region 6p12-21.2. A highly informative RFLP was identified at the MCM gene locus which will be useful for genetic diagnostic and linkage studies.

MeSH Terms

Animals Chromosome Mapping Chromosomes, Human, Pair 6 Cricetinae Cricetulus DNA/genetics Genetic Markers Humans Hybrid Cells Isomerases/genetics Methylmalonyl-CoA Mutase/genetics Polymorphism, Restriction Fragment Length

Chemicals

Genetic Markers DNA Isomerases Methylmalonyl-CoA Mutase

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Ledley F D

Howard Hughes Medical Institute, Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030.

Lumetta M R

Zoghbi H Y

VanTuinen P

Ledbetter S A

Ledbetter D H

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1988-06-00

Pages

839-46

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1715214

Subset

Grants

BHP HRSA HHS · DH20619 · United States

NICHD NIH HHS · K11 HD00684 · United States

NICHD NIH HHS · R29 HD24186 · United States

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Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

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