Show simple item record

Insertion and Evolution of an Endogenous Retrovirus into KIT is Responsible for Multiple Phenotypes at the White Locus in the Domestic Cat

dc.contributor.advisorMenotti-Raymond, Marilynen_US
dc.contributor.advisorMount, Stephen Men_US
dc.contributor.authorWallace, Andrea Brynneen_US
dc.date.accessioned2014-06-24T05:43:25Z
dc.date.available2014-06-24T05:43:25Z
dc.date.issued2014en_US
dc.identifier.urihttp://hdl.handle.net/1903/15180
dc.description.abstractThe Dominant White locus (W) in the domestic cat demonstrates pleiotropic effects exhibiting complete penetrance for absence of coat pigmentation and incomplete penetrance for deafness and iris hypopigmentation. I preformed linkage analysis using a pedigree segregating White to identify KIT (Chr. B1), as the feline W locus. Segregation and sequence analysis of the KIT gene in two pedigrees (P1 and P2) revealed the remarkable retrotransposition and evolution of a feline endogenous retrovirus (FERV1) as responsible for two distinct phenotypes of the W locus, Dominant White, and White Spotting. The retrotransposition interrupts a DNase I hypersensitive site in KIT intron 1 that was previously demonstrated to regulate temporal and tissue specific expression of KIT in mice. A large population-genetic survey of cats (n=269), supports our findings and demonstrates statistical significance of the FERV1 LTR and full-length element with Dominant White (p < 0.0001) and White Spotting (p< 0.0001), respectively.en_US
dc.language.isoenen_US
dc.titleInsertion and Evolution of an Endogenous Retrovirus into KIT is Responsible for Multiple Phenotypes at the White Locus in the Domestic Caten_US
dc.typeThesisen_US
dc.contributor.publisherDigital Repository at the University of Marylanden_US
dc.contributor.publisherUniversity of Maryland (College Park, Md.)en_US
dc.contributor.departmentBiologyen_US
dc.subject.pqcontrolledGeneticsen_US
dc.subject.pqcontrolledBiologyen_US
dc.subject.pquncontrolledblue eyesen_US
dc.subject.pquncontrolledcaten_US
dc.subject.pquncontrolleddeafnessen_US
dc.subject.pquncontrolleddominant whiteen_US
dc.subject.pquncontrolledfeline modelen_US
dc.subject.pquncontrolledKITen_US


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record