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Transcriptional Regulation and Epigenetics
Fertility
When developmental events go wrong in the germ cells, the result can be infertility. Infertility affects up to one in ten couples of childbearing age in Western society and many people now avail of assisted reproduction techniques. The causes of infertility can be both environmental and genetic, but the genes involved in the latter are still not all identified. We are investigating the potential role of one gene, which is strongly expressed in the testis in causing infertility in a subclass of infertile male patients characterised by a lack of sperm production.
We are also looking at the expression of sex-specific forms of the key regulatory proteins involved in establishing methylation in the germ cells.
Fertility
When developmental events go wrong in the germ cells, the result can be infertility. Infertility affects up to one in ten couples of childbearing age in Western society and many people now avail of assisted reproduction techniques. The causes of infertility can be both environmental and genetic, but the genes involved in the latter are still not all identified. We are investigating the potential role of one gene, which is strongly expressed in the testis in causing infertility in a subclass of infertile male patients characterised by a lack of sperm production.
We are also looking at the expression of sex-specific forms of the key regulatory proteins involved in establishing methylation in the germ cells.
Figure 1. Expression of a germ-cell specific marker in the mouse testis, as visualised using in situ hybridization. A probe corresponding to the message for Mouse Vasa Homologue was hybridized to immature (embryonic day 17.5) or mature adult testis: blue colour indicates where the protein is likely to be found. Expression can be seen in the seminiferous tubules as they start to form (top): in the adult, the tubules contain many types of germ cell, from the stem cells around the edge (black arrow) to the mature spermatocytes (white arrowhead) in the centre.
[See also: Shovlin et al, Human Reproduction (epub ahead of print: doi:10.1093)]
When methylation goes wrong, genes crucial for normal development of the embryo are not switched on or off when they should be. This can lead to serious developmental anomalies or childhood cancers (see the Genelink pages on Beckwith Weidemann Syndrome and Prader-Willi Syndrome) or the further links on our teaching pages here.
Methylation is largely established in the germ cells and is a form of epigenetic control of gene expression. Germ cells are one type of germ cell, and methylation is important in other stem cells as well, such as ES cells.
We are currently developing ways in which to grow germ cells in culture and to look at the events occuring while methylation is established on the cells.
