Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.
نویسندگان
چکیده
L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, T Attié-Bitach . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.
BACKGROUND Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiquitin E3 ligase activity and regulate the turnover of microtubular protein ph...
متن کاملLETTER TO JMG Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
L Pinson, J Augé, S Audollent, G Mattéi, H Etchevers, N Gigarel, F Razavi, D Lacombe, S Odent, M Le Merrer, J Amiel, A Munnich, G Meroni, S Lyonnet, M Vekemans, T Attié-Bitach . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملPhosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4.
Opitz syndrome (OS) is a human genetic disease characterized by deformities such as cleft palate that are attributable to defects in embryonic development at the midline. Gene mapping has identified OS mutations within a protein called Mid1. Wild-type Mid1 predominantly colocalizes with microtubules, in contrast to mutant versions of Mid1 that appear clustered in the cytosol. Using yeast two-hy...
متن کاملP-157: Polymorphic Core Promoter GA-repeats Alter Gene Expression of The Early Embryonic Developmental Genes
Background: We examine the GA-repeat core promoters of MECOM and GABRA3 in human embryonic kidney-293 cell line and show that those GA-repeats have promoter activity,and those different alleles of the repeats can significantly alter gene expression.We propose a novel role for GA-repeat core promoters to regulate gene expression in the genes involved in development and evolution. Materials and M...
متن کاملMidline 1 directs lytic granule exocytosis and cytotoxicity of mouse killer T cells.
Midline 1 (MID1) is a microtubule-associated ubiquitin ligase that regulates protein phosphatase 2A activity. Loss-of-function mutations in MID1 lead to the X-linked Opitz G/BBB syndrome characterized by defective midline development during embryogenesis. Here, we show that MID1 is strongly upregulated in murine cytotoxic lymphocytes (CTLs), and that it controls TCR signaling, centrosome traffi...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 41 5 شماره
صفحات -
تاریخ انتشار 2004