MOLECULAR AND FUNCTIONAL-CHARACTERIZATION OF THE MURINE GLUCOCEREBROSIDASE GENE

被引：13

作者：

CARSTEA, ED

MURRAY, GJ

ONEILL, RR

机构：

[1] Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, Building 10

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1992年 / 184卷 / 03期

关键词：

D O I：

10.1016/S0006-291X(05)80049-X

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A genomic clone of glucocerebrosidase (D-glucosyl-N-acyl-sphingosine glucohydrolase; E.C. 3.2.1.45) purified from a genomic library derived from a Balb/c mouse was analyzed by restriction mapping and nucleotide sequencing of its promoter and protein coding regions. Promoter activity was functionally assessed by ligation of a 2 kb glucocerebrosidase fragment to the protein coding segment of a bacterial neomycin resistance gene. Smaller segments of the 5′ flanking sequence were then analyzed for their ability to initiate transcription of the chloramphenicol acetyltransferase reporter gene. A 319 bp Eco RI-Bgl II fragment (containing 259 bp upstream of the cDNA 5′ limit) ligated to the chloramphenicol acetyltransferase open reading frame produced considerable activity. © 1992 Academic Press, Inc.

引用

页码：1477 / 1483

页数：7

共 20 条

[1] REPLACEMENT THERAPY FOR INHERITED ENZYME DEFICIENCY - MACROPHAGE-TARGETED GLUCOCEREBROSIDASE FOR GAUCHERS-DISEASE [J].

BARTON, NW ;

BRADY, RO ;

DAMBROSIA, JM ;

DIBISCEGLIE, AM ;

DOPPELT, SH ;

HILL, SC ;

MANKIN, HJ ;

MURRAY, GJ ;

PARKER, RI ;

ARGOFF, CE ;

GREWAL, RP ;

YU, KT .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (21) :1464-1470

[2]

Brady R. O., 1983, METABOLIC BASIS INHE, P842

[3] METABOLISM OF GLUCOCEREBROSIDES .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHERS DISEASE [J].

BRADY, RO ;

KANFER, JN ;

SHAPIRO, D .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1965, 18 (02) :221-&

[4]

BRADY RO, 1965, J BIOL CHEM, V240, P39

[5]

BRADY RO, IN PRESS MOL GENETIC

[6] GENE-MAPPING AND LEADER POLYPEPTIDE SEQUENCE OF HUMAN GLUCOCEREBROSIDASE - IMPLICATIONS FOR GAUCHER DISEASE [J].

GINNS, EI ;

CHOUDARY, PV ;

TSUJI, S ;

MARTIN, B ;

STUBBLEFIELD, B ;

SAWYER, J ;

HOZIER, J ;

BARRANGER, JA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (20) :7101-7105

[7] RECOMBINANT GENOMES WHICH EXPRESS CHLORAMPHENICOL ACETYLTRANSFERASE IN MAMMALIAN-CELLS [J].

GORMAN, CM ;

MOFFAT, LF ;

HOWARD, BH .

MOLECULAR AND CELLULAR BIOLOGY, 1982, 2 (09) :1044-1051

[8] THE HUMAN GLUCOCEREBROSIDASE GENE AND PSEUDOGENE - STRUCTURE AND EVOLUTION [J].

HOROWITZ, M ;

WILDER, S ;

HOROWITZ, Z ;

REINER, O ;

GELBART, T ;

BEUTLER, E .

GENOMICS, 1989, 4 (01) :87-96

[9]

Kolodny EH, 1982, GAUCHER DISEASE CENT, P33

[10] DEFINITION OF MOUSE CHROMOSOME-1 AND CHROMOSOME-3 GENE LINKAGE GROUPS THAT ARE CONSERVED ON HUMAN CHROMOSOME-1 - EVIDENCE THAT A CONSERVED LINKAGE GROUP SPANS THE CENTROMERE OF HUMAN CHROMOSOME-1 [J].

MOSELEY, WS ;

SELDIN, MF .

GENOMICS, 1989, 5 (04) :899-905

← 1 2 →