Creavin, Treasa Agnes Della Geraldine; (1999) Transcriptional mapping of human chromosome 16p12.3-p12.2. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

This thesis describes the construction of a transcriptional map of human chromosome 16p12.3-p12.2. The region under investigation is located between hybrid intervals CY11-CY15 and consists of 1.34 Mb of cloned DNA contained in 82 cosmids mapped to 18 contigs. All cosmids were analysed for the presence of CpG islands and unique EcoRI DNA fragments. Cosmids thought likely to contain coding sequences were further analysed by cDNA library screening, cDNA selection and exon trapping. Transcripts were localised to the region by southern blotting, sequenced and compared to sequences deposited in the public databases. Genes and cDNAs known to map to the region were further defined. ESTs that had been mapped between markers D16S410-D16S412 as part of the Science Human Transcript Map project were anchored to the cosmids by screening IMAGE cDNAs against the chromosome 16 cosmid library. Fourteen cDNAs were integrated with the chromosome 16p12.3-p12.2 cosmid map, however two mapped outside the hybrid intervals CYl 1-CY15. Four of the cDNAs mapped to the same cosmid, and mapping data and sequence homology indicated that three were overlapping. Two of the cDNAs had homology to known genes on other chromosomes and probably represent pseudogenes. Eight were IMAGE cDNAs which were anchored to the chromosome 16 cosmid based physical map. The localisation of four genes, SAH, UMOD, CYRM and UQCRC2, were refined with respect to the cosmid physical map. UQCRC2 overlapped one of the IMAGE cDNAs. Database searching resulted in the anchoring of five BACs sequenced at The Institute of Genome Research to the cosmid based transcriptional map

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