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Title: Molecular and genetic analysis of dominant hemimelia and hemimelic extra toes : mouse mutations which affect limb development
Author: Allen, Jeremy Philip
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1998
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The mouse developmental mutation Dominant hemimelia, Dh, is distinguished by pleiotrophic effects which are confined to the posterior half of the animal. To understand the molecular basis of the Dh phenotype this thesis, in part, describes attempts to identify the Dh gene through the technology of positional cloning. Previous analysis of an intraspecific backcross has localised Dh to a critical region of 1.2 cM on chromosome 1. To characterise this region a long range genomic map and a yeast artificial chromosome, YAC, contig covering 2.1Mb have been constructed. The physical location of two genes which are shown to be genetically inseparable from Dh are described; Gli-2, a member of the Gli family of zinc finger genes and inhibinβb, a member of the TGFβ superfamily. Both were analysed for mutation in Dh animals but none were detected. A relationship between Dh and a second mutation Hemimelic extra toes, Hx, which presents a very similar limb phenotype has been proposed by virtue of the two genes residing in apparent paralogous linkage groups on chromosomes one and five respectively. This suggests a common ancestry for the two genes. The candidacy of Gli-2 for Dh raised the possibility that a novel Gli gene was involved in Hx. Identification of such a novel Gli gene was attempted by degenerate PCR. Only the three known Gli genes were detected demonstrating that the mouse genome is unlikely to contain additional Gli genes. The relationship between Hx and a second gene, Pmsc2, was also investigated.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available