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Isolation and characterisation of transcribed sequences from human chromosome 9q

Chadwick, Brian Paul; (1998) Isolation and characterisation of transcribed sequences from human chromosome 9q. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Abstract

The aim of this thesis was to isolate transcribed sequences from the Nevoid Basal Cell Carcinoma Syndrome (NBCCS) candidate region on human chromosome 9q22. We have used the technique of cDNA selection to isolate transcribed sequences from a minimal set of cosmid and PAC clones, covering approximately 1.5 megabases of DNA from 9q22. Twenty seven putative transcripts were identified, and five further characterised. A new member of the forkhead gene family was isolated, FKHL15. A repeat of 19 alanine residues was found in FKHL15, encoded in part by a trinucleotide repeat. Polyalanine stretches have been shown to be associated with transcriptional repression. A human and mouse gene that showed high amino acid identity to the rat ninjurin protein, were cloned and mapped. Rat ninjurin has been shown to be involved in homotypic fusion and the repair of damaged sensory neurones. A novel PHD finger containing gene was isolated, GRC-5. The PHD finger is a member of the Zn-finger family of motifs, and may be involved in protein- protein or protein-DNA interactions. A human gene showing high amino acid homology to the lymphoid cell activation antigen CD39 was cloned and mapped to 9q34(CD39L1). Database searches with the CD39L1 protein sequence revealed that it is likely to be a member of the ectoATPase gene family, and that several other human homologues exist. A small gene (GRC-7), was isolated and appears to encode a novel protein with no homology to entries in any database. The underlying genetic defect in patients with NBCCS was recently shown to be due to mutations in the human homologue of the drosophila segment polarity gene patched. Two other human diseases show linkage to genetic markers on human chromosome 9q22; Hereditary Sensory Neuropathy Type I (HSN-I) and Multiple Self Healing Squamous Epitheliomata (ESS1). The etiology of HSN-I and ESS1 are unknown, and the above genes are candidates.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: Isolation and characterisation of transcribed sequences from human chromosome 9q
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
Keywords: Biological sciences; Basal Cell Carcinoma Syndrome
URI: https://discovery.ucl.ac.uk/id/eprint/10100034
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