LINE-1 transposition into murine Thyroglobulin results in congenital thyroid dysplasia.

ABSTRACT: A spontaneous mutation in the wild type C57BL/6NTac mouse was discovered that is associated with early-onset histopathologic sequalae typical of thyroid dysplasia. The spontaneous mutation resulted from insertion of a L1 long interspersed nuclear element (LINE-1) into an intron within the Thyroglobulin (Tg) gene. The mouse genome contains a significant amount of retrotransposon DNA, and these mobile genetic elements routinely change genomic location through retrotransposition, including in germ cells. Analysis of the thyroid transcriptome suggested that the presence of the LINE-1 interferes with the Tg gene splicing, resulting in exclusion of exon 26 from most Tg transcripts in animals homozygous (HOM) for the insertion. The LINE-1 insertion allele of the Tg gene has been designated Tgtdys

SUBMITTER: Bailey WJ 

PROVIDER: S-EPMC12237065 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature