A GENE ENCODING A FIBROBLAST GROWTH-FACTOR RECEPTOR ISOLATED FROM THE HUNTINGTON DISEASE GENE REGION OF HUMAN CHROMOSOME-4

被引:102
作者
THOMPSON, LM
PLUMMER, S
SCHALLING, M
ALTHERR, MR
GUSELLA, JF
HOUSMAN, DE
WASMUTH, JJ
机构
[1] UNIV CALIF IRVINE,COLL MED,DEPT BIOL CHEM,IRVINE,CA 92717
[2] MIT,CTR CANC RES,CAMBRIDGE,MA 02139
[3] MASSACHUSETTS GEN HOSP E,CTR NEUROSCI,MOLEC NEUROGENET LAB,BOSTON,MA 02129
关键词
D O I
10.1016/0888-7543(91)90041-C
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
The gene responsible for Huntington disease (HD), an autosomal dominant neurodegenerative disorder, is located near the terminus of the short arm of chromosome 4. Detailed genetic linkage and physical mapping studies have defined a region of ∼2.5 million basepairs where the disease gene is likely to be located. Efforts to identify the disease gene are now focused on the identification and characterization of expressed genes in this region. Nucleotide sequence analysis of a cDNA clone derived from the HD gene region has revealed that it encodes a member of the fibroblast growth factor subfamily of tyrosine kinase receptors, some members of which are known to be involved in the differentiation and survival of certain cell types within the central nervous system. Histochemical analysis using in situ hybridization revealed its expression in many areas of the brain, among them being the caudate and putamen. The nature of this gene, FGFR3, and its map location make it a possible candidate for the HD gene. © 1991.
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页码:1133 / 1142
页数:10
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