Recessive inheritance of population-specific intronic LINE-1 insertion causes a XXXX phenotype.

@entity1 @entity53474 @entity5022 @entity6906 @entity74 @entity6907 @entity3638 @entity28309
UNASSIGNED: Sequences of long interspersed elements ( @entity5022 ) make up    17% of the @entity1 genome. De novo insertions of retrotransposition-active L1s can result in @entity74 . It has been recently shown that the homozygous inactivation of two adjacent genes @entity6906 and @entity6907 encoding organic anion transporting polypeptides @entity6906 and @entity6907 causes a @entity74 presenting with conjugated @entity3638 , a @entity28309 . Here we examined @entity6906 and @entity6907 genes in six Japanese diagnosed with @entity28309 on the basis of laboratory data and laparoscopy. All six Japanese @entity1 were homozygous for the @entity53474 nonsense mutation in @entity6906 and homozygous for the insertion of a    6.1-kbp L1 retrotransposon in intron 5 of @entity6907 , which altogether make up the Japanese-specific haplotype. RNA analysis revealed that the L1 insertion induced deleterious splicing resulting in @entity6907 transcripts lacking exon 5 or exons 5-7 and containing premature stop codons. The expression of @entity6906 and @entity6907 proteins was not detected in liver tissues. This is the first documented case of a population-specific polymorphic intronic L1 transposon insertion contributing to molecular etiology of @entity74 . Since L1 activity in @entity1 genomes is currently seen as a major source of individual genetic variation, further investigations are warranted to determine if this phenomenon results in other @entity74 . This article is protected by copyright. All rights reserved.
