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位于小鼠染色体 2 上的一个基因座与先天性甲状腺功能减退症的易感性有关，该基因座包含一个在甲状腺中表达的必需基因。

A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid.

机构信息

Stazione Zoologica Anton Dohrn, Villa Comunale I, Naples 80121, Italy.

出版信息

Endocrinology. 2010 Apr;151(4):1948-58. doi: 10.1210/en.2009-1240. Epub 2010 Feb 16.

DOI:10.1210/en.2009-1240
PMID:20160132
Abstract

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.

摘要

我们在此报告了一个染色体区域的定位，该区域负责导致 Nkx2-1/Titf1 和 Pax8 基因缺失突变杂合子小鼠中先天性甲状腺功能减退症的菌株特异性发育。表现出先天性甲状腺功能减退症不同易感性的两个品系在该基因座中含有多个单核苷酸多态性，其中一个导致 Dnajc17 的高度保守区域中的一个非同义氨基酸变化，Dnajc17 是 III 型热休克蛋白-40（Hsp40）家族的成员。我们证明 Dnajc17 在甲状腺芽中高度表达，并在发育中具有重要功能，提示该蛋白在甲状腺器官发生和/或功能中具有重要作用。

相似文献

1
A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid.位于小鼠染色体 2 上的一个基因座与先天性甲状腺功能减退症的易感性有关，该基因座包含一个在甲状腺中表达的必需基因。
Endocrinology. 2010 Apr;151(4):1948-58. doi: 10.1210/en.2009-1240. Epub 2010 Feb 16.
2
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A branching morphogenesis program governs embryonic growth of the thyroid gland.一个分支形态发生程序控制着甲状腺的胚胎发育。
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High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.高分辨率熔解分析（HRM）在甲状腺发育不良患者中 Dnajc17 基因突变筛查中的应用。
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Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.脑-肺-甲状腺综合征不典型表型患者中的新型 NKX2-1 移码突变。
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A modifier gene alleviates hypothyroidism-induced hearing impairment in Pou1f1dw dwarf mice.一个修饰基因可减轻 POU1F1dw 矮小型小鼠的甲状腺功能减退症引起的听力损伤。
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