Cheng Y, Cheung M, Abu-Elmagd M M, Orme A, Scotting P J
Nottingham Children's Brain Tumour Research Centre, Institute of Genetics, University of Nottingham, Queen's Medical Centre, NG7 2UH, Nottingham, UK.
Brain Res Dev Brain Res. 2000 Jun 30;121(2):233-41. doi: 10.1016/s0165-3806(00)00049-3.
Human SOX10 and mouse Sox10 have been cloned and shown to be expressed in the neural crest derivatives that contribute to formation of the peripheral nervous system during embryogenesis. Mutations in Sox10 have been identified as a cause of the Dominant megacolon mouse and Waardenburg-Shah syndrome in human, both of which include defects in the enteric nervous system and pigmentation (and in the latter, sometimes hearing). We have cloned a chick Sox10 ortholog (cSox10) in order to study its role in neural crest cell development. This cDNA reveals a 1383 bp open reading frame encoding 461 amino acids which is highly conserved with human SOX10 and mouse Sox10. In situ hybridization showed cSox10 is expressed in migrating neural crest cells just after the zinc finger transcription factor Slug, but is lost as cells undergo neuronal differentiation in ganglia of the peripheral nervous system. In addition, cSox10 is expressed in the developing otic vesicle, the developing central nervous system and pineal gland.
人类SOX10和小鼠Sox10已被克隆，并显示在胚胎发育过程中对周围神经系统形成有贡献的神经嵴衍生物中表达。已确定Sox10突变是导致显性巨结肠小鼠和人类瓦登伯革-沙阿综合征的原因，这两种病症均包括肠神经系统和色素沉着缺陷（在后者中，有时还包括听力缺陷）。为了研究其在神经嵴细胞发育中的作用，我们克隆了鸡的Sox10直系同源基因（cSox10）。该cDNA揭示了一个1383 bp的开放阅读框，编码461个氨基酸，与人类SOX10和小鼠Sox10高度保守。原位杂交显示，cSox10在锌指转录因子Slug之后立即在迁移的神经嵴细胞中表达，但在周围神经系统神经节中的细胞进行神经元分化时消失。此外，cSox10在发育中的耳泡、发育中的中枢神经系统和松果体中表达。
