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Literature DB >> 2897160

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

F D Ledley¹, M R Lumetta, H Y Zoghbi, P VanTuinen, S A Ledbetter, D H Ledbetter.

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.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1988 PMID： 2897160 PMCID： PMC1715214

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

21 in total

1. An improved method for G-banding chromosomes after in situ hybridization.

Authors: L A Cannizzaro; B S Emanuel
Journal: Cytogenet Cell Genet Date: 1984

2. Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6.

Authors: S L Naylor; A Y Sakaguchi; T B Shows; K H Grzeschik; M Holmes; M Zasloff
Journal: Proc Natl Acad Sci U S A Date: 1983-08 Impact factor: 11.205

3. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.

Authors: M E Harper; G F Saunders
Journal: Chromosoma Date: 1981 Impact factor: 4.316

4. Human liver fatty acid binding protein gene is located on chromosome 2.

Authors: S H Chen; P Van Tuinen; D H Ledbetter; L C Smith; L Chan
Journal: Somat Cell Mol Genet Date: 1986-05

5. Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

Authors: D Watkins; D S Rosenblatt
Journal: Am J Hum Genet Date: 1986-09 Impact factor: 11.025

6. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

Authors: J F Kolhouse; C Utley; W A Fenton; L E Rosenberg
Journal: Proc Natl Acad Sci U S A Date: 1981-12 Impact factor: 11.205

7. Benign methylmalonic aciduria.

Authors: F D Ledley; H L Levy; V E Shih; R Benjamin; M J Mahoney
Journal: N Engl J Med Date: 1984-10-18 Impact factor: 91.245

8. Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells.

Authors: W A Fenton; A M Hack; D Helfgott; L E Rosenberg
Journal: J Biol Chem Date: 1984-05-25 Impact factor: 5.157

9. Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.

Authors: T S Su; R L Nussbaum; S Airhart; D H Ledbetter; T Mohandas; W E O'Brien; A L Beaudet
Journal: Am J Hum Genet Date: 1984-09 Impact factor: 11.025

10. The natural history of the inherited methylmalonic acidemias.

Authors: S M Matsui; M J Mahoney; L E Rosenberg
Journal: N Engl J Med Date: 1983-04-14 Impact factor: 91.245

26 in total

Review 1. Mouse chromosome 17.

Authors: L M Silver; K Artzt; D Barlow; K Fischer-Lindahl; M F Lyon; J Klein; L Snyder
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

Review 2. Mouse chromosome 17.

Authors: K Artzt; D Barlow; W F Dove; K Fischer-Lindahl; J Klein; M F Lyon; L M Silver
Journal: Mamm Genome Date: 1991 Impact factor: 2.957

3. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

Authors: R Jansen; F D Ledley
Journal: Am J Hum Genet Date: 1990-11 Impact factor: 11.025

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

1. An improved method for G-banding chromosomes after in situ hybridization.

2. Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6.

3. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.

4. Human liver fatty acid binding protein gene is located on chromosome 2.

5. Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

6. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.

7. Benign methylmalonic aciduria.

8. Biogenesis of the mitochondrial enzyme methylmalonyl-CoA mutase. Synthesis and processing of a precursor in a cell-free system and in cultured cells.

9. Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis.

10. The natural history of the inherited methylmalonic acidemias.

Review 1. Mouse chromosome 17.

Review 2. Mouse chromosome 17.

3. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

4. Coordination chemistry controls the thiol oxidase activity of the B₁₂-trafficking protein CblC.

5. Clinical characteristics and gene mutation analysis of methylmalonic aciduria.

6. Methylmalonic Acidemia Diagnosis by Laboratory Methods.

7. Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

8. Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia.

Review 9. Methylmalonic and propionic acidemias: clinical management update.

10. Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.