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Nat Genet ; 35(3): 221-8, 2003 Nov.
Article in English | MEDLINE | ID: mdl-14517553

ABSTRACT

Endogenous retroviruses have shaped the evolution of mammalian genomes. Host genes that control the effects of retrovirus insertions are therefore of great interest. The modifier-of-vibrator-1 locus (Mvb1) controls levels of correctly processed mRNA from genes mutated by endogenous retrovirus insertions into introns, including the Pitpn(vb) tremor mutation and the Eya1(BOR) model of human branchiootorenal syndrome. Positional complementation cloning identifies Mvb1 as the nuclear export factor Nxf1, providing an unexpected link between the mRNA export receptor and pre-mRNA processing. Population structure of the suppressive allele in wild Mus musculus castaneus suggests selective advantage. A congenic Mvb1(CAST) allele is a useful tool for modifying gene expression from existing mutations and could be used to manipulate engineered mutations containing retroviral elements.


Subject(s)
Alleles , DNA-Binding Proteins/genetics , Endogenous Retroviruses/genetics , Amino Acid Sequence , Animals , Genetic Complementation Test , Humans , Introns , Mice , Mice, Mutant Strains , Molecular Sequence Data , Mutagenesis, Insertional , Repressor Proteins , Sequence Homology, Amino Acid , Transcription Factors , Transgenes
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