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Title: The characterisation of genes localised on chromosome 2p23.3
Author: Wightman, Patrick John
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 2001
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A 2MB physical contig that spanned both the KHK-GCKR genomic region and the DFNB9 interval was constructed using YACs, BACs, PACs, and cosmids and assembled by a combination of STS content analysis and cosmid fingerprinting. This physical contig was used as the basis for transcript mapping by a combination of PCR screening of genomic clones for cDNA markers mapping to the 2p23 region and direct sequencing of genomic clones with computer analysis of sequences to search for similarity to ESTs. A total of 14 known genes and 15 ESTs were mapped to the physical contig. Several ESTs were chosen for further investigations based upon the involvement of their predicted encoded proteins in various biochemical pathways with potential roles in the pathogenesis of type 2 diabetes or deafness. Genes that were cloned included elF2B4, the gene that encodes the delta subunit of the guanine nucleotide exchange factor elF2B, which plays a key role in protein synthesis initiation and has been shown to be stimulated by both glucose and sugar phosphates. The genomic structure was characterized, two different isoforms identified and tissue specific splice forms identified. A gene called KIAA0064 was also characterized due to its intimate location upstream to elF2B4. An EST showing homology to ribokinase was investigated as it belonged to the same family of kinase proteins as KHK. Three genes were identified as candidate DFNB9 genes: MPV17, KIF3C, and KCNK3. The KIF3C gene was cloned, genomic structure characterized and the mouse homologue mapped.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available