西亚试剂：Whole-exome sequencing identifies recessive WDR62 mutations

发布时间：2025-10-14

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Kaya Bilgüvar,Ali Kemal ?ztürk,Angeliki Louvi,Kenneth Y. Kwan,Murim Choi,Burak Tatl?,Dilek Yaln?zo?lu,Beyhan Tüysüz,Ahmet Okay ?a?layan,Sarenur G?kben,Hande Kaymak?alan,Tanyeri Barak,Mehmet Bak?rc?o?lu,Katsuhito Yasuno,Winson Ho,Stephan Sanders,Ying Zhu,Sanem Y?lmaz,Alp Din?er,Michele H. Johnson,Richard A. Bronen,Naci Ko?er,Hüseyin Per,Shrikant Mane,Mehmet Necmettin Pamir,Cengiz Yal??nkaya,Sefer Kumanda?,Meral Top?u,Meral ?zmen,Nenad ?estan,Richard P. Lifton,richard.lifton@yale.eduMatthew W. Statematthew.state@yale.edu& Murat Günel

The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers1, 2. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development3, 4, 5, 6. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging.

• 以上资料由西亚试剂：http://www.xiyashiji.com/ 提供此产品的详细信息如密度,含量,分子式,分子量等均可在西亚官网查询   
• (http://www.xiyam.com,http://www.xiyashiji.com/ )，相关产品如溴化汞硝酸亚汞氯化亚汞乙酸苯汞氯化钾汞 碘化汞钾硫氰酸汞硫酸亚汞氧化汞氯化汞碘化汞硝酸汞三氯氧磷三氯化磷碘甲烷二碘甲烷三碘甲烷三氟碘甲烷氘代碘甲烷碘乙烷1,2-二碘乙烷甲酸铷碘化铷溴化铷铬酸铷硫酸铷氟化铷硝酸铷氯化铷碳酸铷硫酸镱 碳酸镱氯化镱硝酸镱氧化镱等均有销售.欢迎订购

上一篇：食用某些食品乳化剂可能与患2型糖尿病的风险有关
下一篇：西亚试剂：Restoration of auditory evoked responses by human ES-cell-d