Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload.

ABSTRACT: Spinal muscular atrophy (SMA) is characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron 1 gene (SMN1). SMN is involved in various processes including the formation of the spliceosome, pre-mRNA splicing and transcription. To know whether SMN has an essential role in all mammalian cell types or an as yet unknown specific function in the neuromuscular system, deletion of murine Smn exon 7, the most frequent mutation found among SMA patients, has been restricted to liver. Homozygous mutation results in severe impairment of liver development associated with iron overload and lack of regeneration leading to dramatic liver atrophy and late embryonic lethality of mutant mice. These data strongly suggest an ubiquitous and essential role of full-length

SUBMITTER: Vitte JM 

PROVIDER: S-EPMC1618680 | biostudies-literature | 2004 Nov

REPOSITORIES: biostudies-literature