CHARACTERIZATION OF THE HUMAN GENE FOR A NEWLY DISCOVERED CARBONIC-ANHYDRASE, CA-VII, AND ITS LOCALIZATION TO CHROMOSOME-16

被引:62
作者
MONTGOMERY, JC [1 ]
VENTA, PJ [1 ]
EDDY, RL [1 ]
FUKUSHIMA, YS [1 ]
SHOWS, TB [1 ]
TASHIAN, RE [1 ]
机构
[1] NEW YORK STATE DEPT HLTH, ROSWELL PK MEM INST, DEPT HUMAN GENET, BUFFALO, NY 14263 USA
关键词
D O I
10.1016/0888-7543(91)90006-Z
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Six carbonic anhydrase (CA) isozymes (CA I-VI) in mammals and other amniotes have been described. We have isolated an additional CA gene from a human genomic library and designated its putative product carbonic anhydrase VII (CA VII). The gene is approximately 10 kb long and contains seven exons and six introns found at positions identical to those determined for the previously described CA I, CA II, and CA III genes. The finding of a 17-bp GT-rich segment in a position 28 bp downstream of the poly(A)+ signal and the high correspondence of the 5′ and 3′ splice sites of the six introns with consensus junction sequences are consistent with the gene being functional. The 5′ flanking regions of the CA VII gene do not contain the TATA and CAAT promoter elements usually found within 100 bp upstream of transcription initiation, but do contain a TTTAA sequence 102 nucleotides upstream of the initiation codon. The 5′ region of the gene (-243 to +551) is GC-rich and contains 80 CpG dinucleotides and four possible Sp1 (GGGCGG or CCGCCC) binding sites. Northern analysis has identified the salivary gland as a major site of expression. The derived amino acid sequence of the CA VII gene is 263 amino acids long and has 50, 56, and 49% identity with human CA I, CA II, and CA III, respectively. No differences were found at any of the 39 positions that have remained invariant in all mammalian CA isozymes sequenced to date. Based on analysis of interspecific somatic cell hybrids, the human CA VII gene, CA7, was assigned to chromosome 16, with localization to the long arm at the q21-23 region by in situ hybridization. This is in contrast to the location of the CA I, CA II, and CA III gene cluster on human chromosome 8 and that of the human CA VI gene on chromosome 1. © 1991.
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页码:835 / 848
页数:14
相关论文
共 74 条
  • [1] HUMAN SECRETED CARBONIC-ANHYDRASE - CDNA CLONING, NUCLEOTIDE-SEQUENCE, AND HYBRIDIZATION HISTOCHEMISTRY
    ALDRED, P
    FU, P
    BARRETT, G
    PENSCHOW, JD
    WRIGHT, RD
    COGHLAN, JP
    FERNLEY, RT
    [J]. BIOCHEMISTRY, 1991, 30 (02) : 569 - 575
  • [2] NUCLEOTIDE AND DERIVED AMINO-ACID-SEQUENCE OF A CDNA-ENCODING A NEW MOUSE CARBONIC-ANHYDRASE
    AMORGUERET, M
    LEVISTRAUSS, M
    [J]. NUCLEIC ACIDS RESEARCH, 1990, 18 (06) : 1646 - 1646
  • [3] MAPPING OF MOUSE CARBONIC ANHYDRASE-3, CAR-3 - ANOTHER LOCUS IN THE HOMOLOGOUS REGION OF MOUSE CHROMOSOME-3 AND HUMAN CHROMOSOME-8
    BEECHEY, C
    TWEEDIE, S
    SPURR, N
    BALL, S
    PETERS, J
    EDWARDS, Y
    [J]. GENOMICS, 1990, 6 (04) : 692 - 696
  • [4] BUFFER GRADIENT GELS AND S-35 LABEL AS AN AID TO RAPID DNA-SEQUENCE DETERMINATION
    BIGGIN, MD
    GIBSON, TJ
    HONG, GF
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (13): : 3963 - 3965
  • [5] CPG ISLANDS AS GENE MARKERS IN THE VERTEBRATE NUCLEUS
    BIRD, AP
    [J]. TRENDS IN GENETICS, 1987, 3 (12) : 342 - 347
  • [6] TRANSCRIPTION TERMINATION AND 3' PROCESSING - THE END IS IN SITE
    BIRNSTIEL, ML
    BUSSLINGER, M
    STRUB, K
    [J]. CELL, 1985, 41 (02) : 349 - 359
  • [7] BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025
  • [8] PURIFICATION AND BIOCHEMICAL-CHARACTERIZATION OF THE PROMOTER-SPECIFIC TRANSCRIPTION FACTOR, SPL
    BRIGGS, MR
    KADONAGA, JT
    BELL, SP
    TJIAN, R
    [J]. SCIENCE, 1986, 234 (4772) : 47 - 52
  • [9] BUTTERWORTH PHW, 1991, CARBONIC ANHYDRASES, P197
  • [10] CARBONIC-ANHYDRASE IN THE RAT SALIVARY-GLANDS - DISTRIBUTION AND ULTRASTRUCTURAL-LOCALIZATION
    CARPENTIER, P
    CHETAIL, M
    FOURNIE, J
    [J]. BIOLOGY OF THE CELL, 1985, 54 (03) : 241 - 249