PhD: Evolution of gene copy number variation

PhD opportunity - October 2009

   Supervisor: Dr Ed Hollox

Fully-funded 3-year PhD studentship starting October 2009
Department of Genetics and College of Medicine and Biological Sciences
University Of Leicester

Gene copy number variation (CNV), where different numbers of the same gene are present in different
individuals, has been shown to be an important form of natural genomic variation. In humans it can affect the
susceptibility to certain common diseases, for example psoriasis and the susceptibility to HIV. Despite its
importance, the evolutionary history of copy number variable regions is not well understood. Copy number
variation may be an intermediate stage after gene duplication but before the evolution of new gene function, yet
several gene families appear to be copy number variable across several species, suggesting that copy number
polymorphism has been maintained for a long time.
For example, several members of the beta-defensin family of genes are copy number variable in humans and
dogs, two species that diverged between 90 and 100 million years ago. We have studied these beta-defensin
genes for several years. They are multifunctional: they are antibacterial and antiviral in many species, have
immune cell signalling activity in humans, control coat colour in dogs, and are a key component of platypus
venom. Because of their role in several biological processes, they are thought to be involved in a number of
different human diseases. They provide an example of a gene family that has acquired different functions in
several different species in response to the environment.
This project will involve examining beta-defensin copy number variation in several different mammalian species
in order to try and understand the evolutionary history and processes affecting these genes. We have
assembled a network of collaborators from California, Cambridge, Ohio and elsewhere for this project.
Experience of molecular genetic methods and an interest in evolutionary biology would be an advantage.

Eligibility: To be eligible a candidate must hold an academic qualification of at least an Upper Second Class
degree or equivalent in a relevant subject, and be a UK or EU national or have a UK permanent residency visa.
Information for online applications: www.le.ac.uk/graduateoffice/hdapplyonline.html
Further details on the university: www.youtube.com/user/UniversityLeicester
Informal enquires: ejh33@le.ac.uk
Further reading: Hurles et al. (2008) Trends in Genetics, 24, 238
Hollox et al. (2008) Genome Research 18, 1686