Human hexose-6-phosphate dehydrogenase (Glucose 1-dehydrogenase) encoded at 1p36: Coding sequence and expression

被引:46
作者
Mason, PJ
Stevens, D
Diez, A
Knight, SW
Scopes, DA
Vulliamy, TJ
机构
[1] Univ London Imperial Coll Sci Technol & Med, Dept Haematol, Royal Postgrad Med Sch, Hammersmith Hosp,Sch Med, London W12 0NN, England
[2] Univ Complutense Madrid, Fac Vet, Dept Bioquim & Biol Mol 4, E-28040 Madrid, Spain
基金
英国医学研究理事会;
关键词
hexose-6-phosphate dehydrogenase gene; glucose; 1-dehydrogenase; microsomal G6PD; chromosome; 1p36; long 3 ' untranslated region; devb;
D O I
10.1006/bcmd.1999.0224
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Using the published protein sequence from a rabbit microsomal glucose-6-phosphate dehydrogenase G6PD we have isolated and sequenced a cDNA clone coding for its human equivalent, which is also known as hexose-6-phosphate dehydrogenase (H6PD) and glucose dehydrogenase. The corresponding genomic sequence is in the databases enabling its localization to chromosome 1p36, The gene spans 37 kb and consists of 5 exons, the fifth of which codes for more than half of the 89kDa protein. The first intron is a 10kb insertion in the 5' untranslated sequence. The predicted mRNA has an exceptionally long (6.5kb) 3' untranslated sequence. The predicted protein shows extensive homology with X-linked G6PD, suggesting the two genes share a common ancestor but no intron positions are conserved between the two genes suggesting the gene duplication was an ancient event. The C-terminal portion of the protein is not homologous with G6PD but shows limited homology with proteins of unknown function found throughout evolution and encoded next to G6PD in various micro-organisms. Intriguingly this C-terminal portion has some homology with the N-terminal sequence of Plasmodium falciparum G6PD. (C) 1998 Academic Press.
引用
收藏
页码:30 / 37
页数:8
相关论文
共 19 条
[1]   Hematologically important mutations: Glucose-6-phosphate dehydrogenase [J].
Beutler, E ;
Vulliamy, T ;
Luzzatto, L .
BLOOD CELLS MOLECULES AND DISEASES, 1996, 22 (04) :49-56
[2]  
BEUTLER E, 1967, J BIOL CHEM, V242, P5289
[3]   SALIVARY ENZYME POLYMORPHISMS (SET, SGD AND AMY1) IN THE GALICIAN POPULATION [J].
BOAN, F ;
CAEIRO, JLB .
HUMAN HEREDITY, 1988, 38 (02) :83-90
[4]   HUMAN-ERYTHROCYTE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE - IDENTIFICATION OF A REACTIVE LYSYL RESIDUE LABELED WITH PYRIDOXAL 5'-PHOSPHATE [J].
CAMARDELLA, L ;
CARUSO, C ;
RUTIGLIANO, B ;
ROMANO, M ;
DIPRISCO, G ;
DESCALZICANCEDDA, F .
EUROPEAN JOURNAL OF BIOCHEMISTRY, 1988, 171 (03) :485-489
[5]   GENE ORDER AND LOCALIZATION OF ENZYME LOCI ON THE SHORT ARM OF CHROMOSOME-1 [J].
CARRITT, B ;
KING, J ;
WELCH, HM .
ANNALS OF HUMAN GENETICS, 1982, 46 (OCT) :329-335
[6]   MINIMAL RESIDUAL DISEASE AFTER ALLOGENEIC BONE-MARROW TRANSPLANTATION FOR CHRONIC MYELOID-LEUKEMIA IN 1ST CHRONIC PHASE - CORRELATIONS WITH ACUTE GRAFT-VERSUS-HOST DISEASE AND RELAPSE [J].
CROSS, NCP ;
HUGHES, TP ;
FENG, L ;
OSHEA, P ;
BUNGEY, J ;
MARKS, DI ;
FERRANT, A ;
MARTIAT, P ;
GOLDMAN, JM .
BRITISH JOURNAL OF HAEMATOLOGY, 1993, 84 (01) :67-74
[7]   ASSIGNMENT OF THE GENE FOR HUMAN GLUCOSE-DEHYDROGENASE (EC 1.1.1.47) TO CHROMOSOME-1 USING SOMATIC-CELL HYBRIDS [J].
HAMEISTER, H ;
ROPERS, HH ;
GRZESCHIK, KH .
CYTOGENETICS AND CELL GENETICS, 1978, 22 (1-6) :200-202
[9]  
HINO Y, 1982, J BIOL CHEM, V257, P2563
[10]   GLUCOSE-DEHYDROGENASE POLYMORPHISM IN MAN [J].
KING, J ;
COOK, PJL .
ANNALS OF HUMAN GENETICS, 1981, 45 (MAY) :129-134