Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
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DOI：
10.1073/pnas.96.17.9727
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发表时间：
1999-08-17
影响因子：
11.1
通讯作者：
Green, ED
中科院分区：
文献类型：
--
作者：
Everett, LA;Morsli, H;Green, ED
彭德雷德综合征是一种常染色体隐性遗传病，以耳聋和甲状腺肿为特征。在我们最近发现了Pendred综合征(PDS)中突变的人类基因后，我们试图更详细地研究该基因的表达及其编码蛋白(Pendrin)的功能，为此，我们分离了相应的小鼠同源基因(PDS)，并对小鼠内耳(从性交后8天到出生后5天)进行了RNA原位杂交，以建立PDS在发育中的听觉和前庭系统中的表达模式。PDS的表达检测到在整个内淋巴管和囊，在椭圆形和球囊的不同区域，以及在耳蜗内的外沟区域，这种高度离散的表达模式不同于任何其他已知基因，它涉及几个被认为对内耳内淋巴液吸收至关重要的区域，与垂蛋白作为阴离子转运体的假定功能一致，这些研究为确定垂蛋白在内耳发育中的确切作用和阐明彭德雷氏综合征耳聋的发病机制提供了关键的第一步。
Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and goiter. After our recent identification of the human gene mutated in Pendred's syndrome (PDS), we sought to investigate in greater detail the expression of the gene and the function of its encoded protein (pendrin), Toward that end,,ve isolated the corresponding mouse ortholog (Pds) and performed RNA in situ hybridization on mouse inner ears (from 8 days postcoitum to postnatal day 5) to establish the expression pattern of Pds in the developing auditory and vestibular systems. Pds expression was detected throughout the endolymphatic duct and sac, in distinct areas of the utricle and saccule, and in the external sulcus region within the cochlea, This highly discrete expression pattern is unlike that of any other known gene and involves several regions thought to be important for endolymphatic fluid resorption in the inner ear, consistent with the putative functioning of pendrin as an anion transporter, These studies provide key first steps toward defining the precise role of pendrin in inner ear development and elucidating the pathogenic mechanism for the deafness seen in Pendred's syndrome.