Title

Identification of X-linked genomic imprinting in Mus musculus

Date of Completion

January 2006

Keywords

Biology, Genetics

Degree

Ph.D.

Abstract

Over 80 mammalian imprinted genes have been discovered to date, and all of which reside on autosomes. Imprinted genes on the X chromosome in mammals was hypothesized not to occur due to dosage compensation, a process that silences one of the female's X chromosomes to adjust for equal expression between males and females. Behavioral analyses that involved girls with Turner syndrome, a condition in which girls only have one X chromosome, suggested that social behavioral disorders were dependent on which parental X chromosome is inherited. This finding supported the notion of a potential X-linked imprinted locus (loci) on the human X chromosome. Molecular analysis of mouse models for Turner syndrome produced the first identification of imprinted genes on a mammalian X chromosome. This discovery provided the first evidence that imprinted genes do exist on a mammalian X chromosome, and should initiate a search for X-linked imprinted genes on the human X chromosome.^