Isolation and Characterisation of DNA Sequences From the Human Y Chromosome

Florentin, Lina (1987) Isolation and Characterisation of DNA Sequences From the Human Y Chromosome. PhD thesis, University of Glasgow.

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Abstract

For the purposes of this study, several panels were constructed, the majority of effort and time focussed on the following: The first, a panel of twelve somatic cell hybrids bearing different parts of the human X chromosome, was characterised both with cytogenetic and molecular techniques. Fifteen well known X-specific probes were used in order to test this panel and by this means their location on the X chromosome was further confirmed. Nine hybrids were shown to contain a contiguous part of the X chromosome while three more hybrids were shown to contain noncontiguous parts of the X chromosomes and need to be further characterised in order to be used succesfully. The panel was then used to map the X-linked fragments detected by GMGXY2 and GMGXY3. The application of molecular analysis of these hybrids helped to define the breakpoints of a translocation product involving the X chromosome retained in a hybrid, and confirmed the presence of the part of the X chromosome in one known hybrid. They also indicated that deletion has occured involving only one locus in two separate hybrids and showed that one hybrid consisted of a mixed population of cells carrying two different polymorphic X chromosomes. These results emphasise the resolution capacity of molecular analysis and bring to the light the advantages and disadvantages of constructing and using a hybrid panel. The second, a Y deletion panel was also constructed from individuals or somatic cell hybrids that have Y chromosome abnormalities and proved to be very useful in the mapping of the Y-specific fragments detected by the sequences isolated here. A panel of hybrids bearing different groups of autosomes was selected and used to map the autosomal fragments detected by some of the recombinants isolated in this study and to combine and compare the results obtained from mapping the same fragments with the use of flow sorted chromosomes. The results presented here demonstrate the importance of such panels in the mapping of single-copy sequences isolated from chromosome-specific libraries. The results are viewed in the light of all available data. Subjects for discussion are the molecular map of the Y chromosome, with special emphasis on its homology with the X chromosome and autosomes and subsequently its evolution. The presence of Y-specific fragments in the genome of XX males is discussed. The findings are consistent with the recently published data and build upon the new ideas about the Y chromosome and its homology with the X chromosome and further with the autosomes. These data could give an insight into the evolutionary steps that this chromosome has undergone and opens up new fields for research. Future work is fully discussed in this thesis. In conclusion these results are believed to give a small but positive contribution to our knowledge of the Y chromosome and its relation to other chromosomes, to enrich our understanding of the evolutionary steps that the genome has undergone and to bring us a step closer to the full mapping of this chromosome (and ultimately the whole genome) and the isolation of the elusive testis determining factor(s). In this way one of the most important biological riddles, the mechanism(s) of primary sex determination, maybe a little closer to solution. (Abstract shortened by ProQuest.).

Item Type: Thesis (PhD)
Qualification Level: Doctoral
Keywords: Genetics, Biochemistry
Date of Award: 1987
Depositing User: Enlighten Team
Unique ID: glathesis:1987-77531
Copyright: Copyright of this thesis is held by the author.
Date Deposited: 14 Jan 2020 11:53
Last Modified: 14 Jan 2020 11:53
URI: http://theses.gla.ac.uk/id/eprint/77531

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