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Title: Differential domain evolution and complex RNA processing in a family of paralogous EPB41 (protein 4.1) genes facilitates expression of diverse tissue-specific isoforms

Journal Article · · Genomics

The EPB41 (protein 4.1) genes epitomize the resourcefulness of the mammalian genome to encode a complex proteome from a small number of genes. By utilizing alternative transcriptional promoters and tissue-specific alternative pre-mRNA splicing, EPB41, EPB41L2, EPB41L3, and EPB41L1 encode a diverse array of structural adapter proteins. Comparative genomic and transcript analysis of these 140kb-240kb genes indicates several unusual features: differential evolution of highly conserved exons encoding known functional domains, interspersed with unique exons whose size and sequence variations contribute substantially to intergenic diversity: alternative first exons, most of which map far upstream of the coding regions; and complex tissue-specific alternative pre-mRNA splicing that facilitates synthesis of functionally different complements of 4.1 proteins in various cells. Understanding the splicing regulatory networks that control protein 4.1 expression will be critical to a full appreciation of the many roles of 4.1 proteins in normal cell biology and their proposed roles in human cancer.

Research Organization:
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Sponsoring Organization:
USDOE Director, Office of Science. Office of Biological and Environmental Research. Life Sciences Division; National Institutes of Health (US)
DOE Contract Number:
AC03-76SF00098
OSTI ID:
836674
Report Number(s):
LBNL-54032; R&D Project: L0211; TRN: US200504%%235
Journal Information:
Genomics, Vol. 84; Other Information: Submitted to Genomics: Volume 84; Journal Publication Date: 2004; PBD: 15 Jul 2004
Country of Publication:
United States
Language:
English