色盲患者视锥光感受器G蛋白α亚基基因GNAT2的突变。
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
作者信息
Kohl Susanne, Baumann Britta, Rosenberg Thomas, Kellner Ulrich, Lorenz Birgit, Vadalà Maria, Jacobson Samuel G, Wissinger Bernd
机构信息
Molekulargenetisches Labor, Universitäts-Augenklinik, Auf der Morgenstelle 15, D-72076 Tübingen, Germany.
出版信息
Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20.
Abstract
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
摘要
色盲是一种常染色体隐性遗传的视觉障碍，出生时即存在，其特征是无法辨别颜色。我们在此报告对五个患有色盲的独立家族的鉴定，这些家族中分离出位于1号染色体1p13上的GNAT2基因中的蛋白质截短突变。GNAT2编码转导素的视锥光感受器特异性α亚基，转导素是光转导级联反应中的一种G蛋白，它与视觉色素偶联。我们的结果表明，GNAT2是第三个与色盲相关的基因。
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