Human stanniocalcin (STC): Genomic structure, chromosomal localization, and the presence of CAG trinucleotide repeats

被引:35
作者
Chang, ACM
Jeffrey, KJ
Tokutake, Y
Shimamoto, A
Neumann, AA
Dunham, MA
Cha, J
Sugawara, M
Furuichi, Y
Reddel, RR
机构
[1] Childrens Med Res Inst, Sydney, NSW 2145, Australia
[2] AGENE Res Inst, Kanagawa 247, Japan
基金
英国医学研究理事会;
关键词
D O I
10.1006/geno.1997.5120
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
Stanniocalcin (STC) is a glycoprotein hormone that is secreted by the corpuscle of Stannius, an endocrine gland of bony fish. It prevents hypercalcemia via mechanisms including inhibition of calcium uptake across the gills. Mammalian homologues have recently been reported but their function is unknown. Here we report the genomic organization and the transcription start site of the human STC gene and the existence of a polymorphic CAG trinucleotide repeat complex within the 5' untranslated region (UTR) of the mRNA and a smaller [CAG](6) repeat in the 3' UTR. As CAG repeats are associated with various human diseases, we used dual-color fluorescence in situ hybridization to localize the STC gene near markers D8S131 and D8S339 on chromosome 8p11.2-p21. STC should be considered a candidate gene for hereditary diseases mapped to this region. (C) 1998 Academic Press.
引用
收藏
页码:393 / 398
页数:6
相关论文
共 29 条
  • [1] BONGA SEW, 1991, INT REV CYTOL, V128, P139
  • [2] PURIFICATION AND CLONING OF A CORPUSCLES OF STANNIUS PROTEIN FROM ANGUILLA-AUSTRALIS
    BUTKUS, A
    ROCHE, PJ
    FERNLEY, RT
    HARALAMBIDIS, J
    PENSCHOW, JD
    RYAN, GB
    TRAHAIR, JF
    TREGEAR, GW
    COGHLAN, JP
    [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1987, 54 (2-3) : 123 - 133
  • [3] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    Campuzano, V
    Montermini, L
    Molto, MD
    Pianese, L
    Cossee, M
    Cavalcanti, F
    Monros, E
    Rodius, F
    Duclos, F
    Monticelli, A
    Zara, F
    Canizares, J
    Koutnikova, H
    Bidichandani, SI
    Gellera, C
    Brice, A
    Trouillas, P
    DeMichele, G
    Filla, A
    DeFrutos, R
    Palau, F
    Patel, PI
    DiDonato, S
    Mandel, JL
    Cocozza, S
    Koenig, M
    Pandolfo, M
    [J]. SCIENCE, 1996, 271 (5254) : 1423 - 1427
  • [4] A NOVEL HUMAN CDNA HIGHLY HOMOLOGOUS TO THE FISH HORMONE STANNIOCALCIN
    CHANG, ACM
    JANOSI, J
    HULSBEEK, M
    DEJONG, D
    JEFFREY, KJ
    NOBLE, JR
    REDDEL, RR
    [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1995, 112 (02) : 241 - 247
  • [5] Molecular cloning and characterization of mouse stanniocalcin cDNA
    Chang, ACM
    Dunham, MA
    Jeffrey, KJ
    Reddel, RR
    [J]. MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1996, 124 (1-2) : 185 - 187
  • [6] DIB A, 1995, ONCOGENE, V10, P995
  • [7] Codon repeats in genes associated with human diseases: Fewer repeats in the genes of nonhuman primates and nucleotide substitutions concentrated at the sites of reiteration
    Djian, P
    Hancock, JM
    Chana, HS
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (01) : 417 - 421
  • [8] FONTAINE M, 1964, CR HEBD ACAD SCI, V259, P875
  • [9] FUJIWARA Y, 1993, CANCER RES, V53, P1172
  • [10] KAGAN J, 1995, ONCOGENE, V11, P2121