CHROMOSOMAL MAPPING OF THE HUMAN CATECHOL-O-METHYLTRANSFERASE GENE TO 22Q11.1-]Q11.2

被引:245
作者
GROSSMAN, MH
EMANUEL, BS
BUDARF, ML
机构
[1] TEMPLE UNIV,ST CHRISTOPHERS HOSP CHILDREN,SCH MED,DEPT PEDIAT,GENET SECT,3601 A ST,PHILADELPHIA,PA 19134
[2] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DIV HUMAN GENET & MOLEC BIOL,PHILADELPHIA,PA 19104
关键词
D O I
10.1016/0888-7543(92)90316-K
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
Catechol-O-methyltransferase (COMT: EC 2.1.1.6) is a physiologically important enzyme in the metabolism of catecholamine neurotransmitters and catechol drugs. Using primers derived from the known rat cDNA sequence for COMT, we have used the polymerase chain reaction to produce an amplified DNA fragment corresponding to the complete coding region of the rat gene. With this fragment as a probe, we have hybridized DNAs from two panels consisting of human/rodent and human/hamster somatic cell hybrids carrying various translocations and deletions to refine the chromosomal location of human COMT. Southern blot analysis indicates that the human COMT gene is localized to 22q11.1→q11.2, a region to which several anonymous DNA sequences, but until now, no structural genes, have been assigned. © 1992.
引用
收藏
页码:822 / 825
页数:4
相关论文
共 21 条
  • [11] GULDBERG HC, 1975, PHARMACOL REV, V27, P135
  • [12] PURIFICATION AND KINETIC MECHANISM OF HUMAN-BRAIN SOLUBLE CATECHOL-O-METHYLTRANSFERASE
    JEFFERY, DR
    ROTH, JA
    [J]. JOURNAL OF NEUROCHEMISTRY, 1985, 44 (03) : 881 - 885
  • [13] CHARACTERIZATION OF MEMBRANE-BOUND AND SOLUBLE CATECHOL-O-METHYLTRANSFERASE FROM HUMAN FRONTAL-CORTEX
    JEFFERY, DR
    ROTH, JA
    [J]. JOURNAL OF NEUROCHEMISTRY, 1984, 42 (03) : 826 - 832
  • [14] CLONING AND CHARACTERIZATION OF HUMAN PLACENTAL CATECHOL-O-METHYLTRANSFERASE CDNA
    LUNDSTROM, K
    SALMINEN, M
    JALANKO, A
    SAVOLAINEN, R
    ULMANEN, I
    [J]. DNA AND CELL BIOLOGY, 1991, 10 (03) : 181 - 189
  • [15] CATECHOL-O-METHYLTRANSFERASE ACTIVITY - A DETERMINANT OF LEVODOPA RESPONSE
    REILLY, DK
    RIVERACALIMLIM, L
    VANDYKE, D
    [J]. CLINICAL PHARMACOLOGY & THERAPEUTICS, 1980, 28 (02) : 278 - 286
  • [16] CONTRIBUTION OF SULFATE CONJUGATION, DEAMINATION, AND O-METHYLATION TO METABOLISM OF DOPAMINE AND NOREPINEPHRINE IN HUMAN-BRAIN
    RIVETT, AJ
    EDDY, BJ
    ROTH, JA
    [J]. JOURNAL OF NEUROCHEMISTRY, 1982, 39 (04) : 1009 - 1016
  • [17] MOLECULAR-CLONING AND CHARACTERIZATION OF RAT-LIVER CATECHOL-O-METHYLTRANSFERASE
    SALMINEN, M
    LUNDSTROM, K
    TILGMANN, C
    SAVOLAINEN, R
    KALKKINEN, N
    ULMANEN, I
    [J]. GENE, 1990, 93 (02) : 241 - 247
  • [18] CATECHOL-O-METHYLTRANSFERASE - THERMOLABILE ENZYME IN ERYTHROCYTES OF SUBJECTS HOMOZYGOUS FOR ALLELE FOR LOW ACTIVITY
    SCANLON, PD
    RAYMOND, FA
    WEINSHILBOUM, RM
    [J]. SCIENCE, 1979, 203 (4375) : 63 - 65
  • [19] GENETICS OF RED-CELL COMT ACTIVITY - ANALYSIS OF THERMAL-STABILITY AND FAMILY DATA
    SPIELMAN, RS
    WEINSHILBOUM, RM
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 10 (03): : 279 - 290
  • [20] WEINSHILBOUM R, 1981, CLIN GENET, V19, P426