Hill, Alexander Stuart; (1997) The physical and genetic mapping of the mucin genes located on chromosomes 7 and 11. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

This thesis is concerned with the genetic and physical mapping of genes which code for mucin glycoproteins, located on chromosome 11p15 (MUC2, MUC6 and MUC5AC) and 7q22 (MUC3). Analysis of polymorphisms within the genes on chromosome 11 in the CEPH EUROGEM families enabled the construction of genetic maps of the region 11p15 and a panel of recombinant chromosomes was characterised. These data allowed the orientation of the mucin gene complex on 11p15 and enabled integration with the physical maps obtained by others. A cDNA clone L31 assigned to 11p15 and with a similar expression pattern to MUC5AC was shown by Southern blot analysis to be physically close to MUC5AC, which together with the presence of a poly A tail indicates that this is the 3' end of the MUC5AC gene. The analysis of the PvuII and PstI polymorphisms of MUC3 shows that there is variation of two separate tandem repeat regions. MUC3 was tested on all the CEPH EUROGEM families and the two zones shown to be tightly linked. Data from these families were used to construct genetic maps of the whole of chromosome 7 and a more detailed map of the q arm. A panel of recombinant chromosomes was selected using a consensus map and used to map the gene PAI1 PFGE and standard Southern blot analysis was used to obtain physical data for the region containing MUC3. The data showed that both VNTR zones are located on a 200kb Swa I fragment and that the 'unique' sequences are also duplicated. Attempts were made to isolate and characterise novel genomic clones. Although these were mostly recombinant clones a single YAC containing a large amount of MUC3 sequence was obtained and the gene ACHE was mapped to this clone. Novel genomic sequence was obtained by vectorette PCR and comprises a 994bp contiguous sequence coding for a 331 residue polypeptide, rich in serine, threonine and proline.

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