Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.

ABSTRACT:

Purpose

Mutations in RPGRIP1 cause Leber congenital amaurosis. The human and bovine RPGRIP1 undergo alternative splicing. A single murine rpgrip1 transcript has been reported, but distinct expression profiles of RPGRIP1 isoforms exist between species in the retina. To elucidate the heterogeneity of RPGRIP1 isoforms and the degree of functional redundancy among these, we extended the analysis of RPGRIP1 to the region between exons 12 and 14, which undergoes significant alternative splicing.

Methods

Identification of alternative splice transcripts of murine and human RPGRIP1 was performed by reverse transcription-polymerase chain reaction (RT-PCR). The murine rpgrip1 isoforms were analyzed by immunoblot and immunocytochemistry analysis of murine retinas and transient transfect

SUBMITTER: Lu X 

PROVIDER: S-EPMC1769349 | biostudies-literature | 2005 Jun

REPOSITORIES: biostudies-literature