Aberrant homeodomain-DNA cooperative dimerization underlies distinct developmental defects in two dominant

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Tác giả: Shiming Chen, Gary D Stormo, Yiqiao Zheng

Ngôn ngữ: eng

Ký hiệu phân loại: 572.869 +Extrachromosomal DNA

Thông tin xuất bản: United States : Genome research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 60087

Paired-class homeodomain (HD) transcription factors (TFs) play essential roles in vertebrate development, and their mutations are linked to human diseases. One unique feature of a paired-class HD is cooperative dimerization on specific palindrome DNA sequences. Yet, the functional significance of HD cooperative dimerization in animal development and its dysregulation in diseases remains elusive. Using the retinal TF cone-rod homeobox (CRX) as a model, we have studied how blindness-causing mutations in the paired HD, p.E80A and p.K88N, alter CRX's cooperative dimerization, leading to gene misexpression and photoreceptor developmental deficits in dominant manners. CRX
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