A novel G protein-coupled receptor kinase gene cloned from 4p16.3
A novel G protein-coupled receptor kinase gene cloned from 4p16.3
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DOI：
10.1093/hmg/1.9.697
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发表时间：
1992-01-01
影响因子：
3.5
通讯作者：
Church, Deanne
中科院分区：
文献类型：
--
作者：
Ambrose, Christine;James, Marianne;Church, Deanne
在 4p16.3 的亨廷顿病 (HD) 候选区域内，D4S127 基因座与缺陷表现出强烈的连锁不平衡，并锚定了在许多 HD 染色体上发现的保守单倍型。为了从该区域分离基因，我们将外显子扩增技术应用于跨越 D4S127 的重叠粘粒。在此，我们报告发现了编码蛋白激酶家族新成员的新基因，该蛋白激酶家族特异性磷酸化 G 蛋白偶联受体的激活形式。此类激酶被认为参与特定受体的脱敏，从而阻断进一步的信号转导。现在必须仔细检查该基因以确定它是否可能与亨廷顿舞蹈症有关。
Within the Huntington's disease (HD) candidate region of 4p16.3, the D4S127 locus displays strong linkage disequilibrium with the defect and anchors a conserved haplotype found on many HD chromosomes. To isolate genes from this region we have applied the exon amplification technique to overlapping cosmids spanning D4S127. Here, we report the discovery of a new gene encoding a novel member of a family of protein kinases that specifically phosphorylate the activated forms of G protein-coupled receptors. Such kinases are thought to participate in desensitization of specific receptors, thereby blocking further signal transduction. This gene must now be carefully scrutinized to determine whether it might be involved in HD.