Literature DB >> 1889817

Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.

S M Zneimer1, K S Lau, R L Eddy, T B Shows, J L Chuang, D T Chuang, R P Cox.   

Abstract

Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The multienzyme complex is a macromolecule (Mr 4 X 10(6] consisting of at least six distinct subunits. In this study, the human E1 beta 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 E1 beta 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 E1 beta and the E2 genes may provide information for the linkage analysis of MSUD families with mutations in these two loci.

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Year:  1991        PMID： 1889817     DOI： 10.1016/0888-7543(91)90458-q

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  7 in total

1.  A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.

Authors:  Lawrence N Hjelm; Ephrem L H Chin; Madhuri R Hegde; Bradford W Coffee; Lora J H Bean
Journal:  J Mol Diagn       Date:  2010-07-15       Impact factor: 5.568

2.  Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 3.  Maple syrup urine disease 1954 to 1993.

Authors:  F Peinemann; D J Danner
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  J Clin Invest       Date:  1997-08-01       Impact factor: 14.808

5.  Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Authors:  L Edelmann; M P Wasserstein; R Kornreich; C Sansaricq; S E Snyderman; G A Diaz
Journal:  Am J Hum Genet       Date:  2001-08-16       Impact factor: 11.025

6.  Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.

Authors:  C W Fisher; C R Fisher; J L Chuang; K S Lau; D T Chuang; R P Cox
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

7.  Maple syrup urine disease: mutation analysis in Turkish patients.

Authors:  A Dursun; M Henneke; K Ozgül; J Gartner; T Coşkun; A Tokatli; H S Kalkanoğlu; M Demirkol; U Wendel; I Ozalp
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982
  7 in total

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