A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
复制标题
编码成纤维细胞生长因子受体的基因，从人类 4 号染色体的亨廷顿病基因区分离出来。
DOI：
10.1016/0888-7543(91)90041-c
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发表时间：
1991
期刊：
影响因子：
4.4
通讯作者：
Wasmuth,JJ
中科院分区：
文献类型：
--
作者：
Thompson,LM;Plummer,S;Schalling,M;Altherr,MR;Gusella,JF;Housman,DE;Wasmuth,JJ
负责亨廷顿病（HD），一种常染色体显性遗传神经退行性疾病的基因位于4号染色体短臂末端附近。详细的遗传连锁和物理作图研究已经确定了一个1250万碱基对的区域，疾病基因可能位于该区域。鉴定疾病基因的努力现在集中在该区域表达基因的鉴定和表征上。来自HD基因区的cDNA克隆的核苷酸序列分析揭示，它编码酪氨酸激酶受体的成纤维细胞生长因子亚家族的一个成员，已知其中一些成员参与中枢神经系统内某些细胞类型的分化和存活。原位杂交的组织化学分析显示它在大脑的许多区域都有表达，其中包括尾状核和壳核。该基因FGFR3的性质及其图谱位置使其成为HD基因的可能候选者。
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 usingin situhybridization 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.