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Title: Evidence suggesting a role for X-linked imprinted gene functioning on brain and behaviour in mice : a phenotypic investigation
Author: Davies, W.
Awarding Body: University of Cambridge
Current Institution: University of Cambridge
Date of Award: 2003
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Imprinted genes, defined as genes showing monoallelic expression depending upon their parental origin, have been shown to play an important role in growth and development. More recent work has suggested that imprinted genes may also influence brain and behavioural phenotypes. In particular, it has been shown that the neuropsychological profile of Turner’s syndrome subjects (karyotype 45,XO) varies according to whether their single X chromosome is inherited paternally (45,XPO) or maternally (45,XmO). This finding has been explained in terms of the existence of X-linked imprinted genes impacting upon specific aspects of cognition. The Turner’s syndrome data has attracted substantial criticism, not least as a result of the confounds inherent in the human model, most notably the presence of cryptic mosaicism. In this thesis, I have utilised a 39,XO mouse model (39,XPO vs. 39,XmO), free from many of the confounds inherent in the Turner’s syndrome work, to test the hypothesis that putative X-linked imprinted genes may affect brain and behavioural phenotypes. A comprehensive initial screen demonstrated that 39,XPO and 39,XmO female mice were equivalent to 40,XX normal females across a wide range of physical, physiological and behavioural functions and that the data were unlikely to be compromised by the specific means of producing the 39,XO mice (via two separate crosses). Overall, these results concur with the work done in Turner’s syndrome subjects and add to the emerging data implicating imprinted gene functioning (and specifically putative X-linked imprinted gene functioning) in brain and behavioural phenotypes. The present data are discussed in terms of their possible relevance for Turner’s syndrome, cognitive sexual dimorphism (whereby males experience a relative lack of paternal gene product) and in the light of evolutionary theories of imprinting.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available