A Locus on Mouse Chromosome 2 Is Involved in Susceptibility to Congenital Hypothyroidism and Contains an Essential Gene Expressed in Thyroid
A Locus on Mouse Chromosome 2 Is Involved in Susceptibility to Congenital Hypothyroidism and Contains an Essential Gene Expressed in Thyroid
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DOI：
10.1210/en.2009-1240
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发表时间：
2010-04-01
期刊：
影响因子：
4.8
通讯作者：
Di Lauro, Roberto
中科院分区：
文献类型：
--
作者：
Amendola, Elena;Sanges, Remo;Di Lauro, Roberto
我们在这里报告了编码 Nkx2-1/Titf1 和 Pax8 的基因无效突变杂合小鼠中负责先天性甲状腺功能减退症品系特异性发展的染色体区域的图谱。显示出先天性甲状腺功能减退症不同易感性的两种菌株在该基因座中含有多个单核苷酸多态性，其中一个导致 Dnajc17（III 型热休克蛋白 40 (Hsp40) 家族成员）高度保守区域的非同义氨基酸变化。我们证明 Dnajc17 在甲状腺芽中高度表达，并且在发育中具有重要功能，表明该蛋白质在甲状腺的器官发生和/或功能中发挥重要作用。 （内分泌学151：1948-1958，2010）
We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland. (Endocrinology 151: 1948-1958, 2010)