Dr Celia A. May

Dr Celia May
Lecturer in Genetics

Tel: +44 (0)116 252 3032
Fax: +44 (0)116 252 3378

E-Mail: cam5@le.ac.uk

 

 

BSc (Nottingham), PhD (Nottingham)

 

Personal details

BSc, PhD

I am interested in understanding fundamental processes like mutation and recombination which generate DNA diversity and thus contribute to disease and drive evolution.

During my studies at the University of Nottingham with David Parkin and Jon Wetton, I exploited the most variable types of genetic marker, the minisatellite class of Variable Number Tandem Repeats (VNTR), to gain insight into avian population structure (reproductive strategies, diversity within and between small isolated populations of diurnal birds of prey). These studies identified the first polymorphic avian sex-specific markers, as well as an extremely mutable VNTR locus with a pronounced sex bias in mutation rate. This raised my interest in understanding the processes that generate such variation and served as the impetus for joining Alec Jeffreys' world-renowned research group in Leicester.

As a post-doctoral researcher, my attention turned to human DNA diversity and the application of single-molecule PCR approaches to quantify de novo mutation events in sperm and somatic DNA. This approach was also extended to routine environmental monitoring using cell-lines exposed to a variety of model mutagens. In conjunction, Minisatellite-Variant-Repeat Mapping (MVR-PCR) was used to characterize mutant structures; in contrast to the complex mode of germline mutation, somatic and induced mutations involved simple gain/loss of contiguous repeats. During this time I was also involved in a study with John Armour (now at Nottingham), examining the genetic diversity of human populations from around the world using MVR-PCR. This work provided support for an "out of Africa" origin for modern humans. In collaboration with Marvin Meistrich (Anderson Cancer Center, Houston), Keiji Tamaki (now at University of Kyoto) and Yuri Dubrova (Leicester), I also developed a duplex single-molecule PCR assay to address issues of dose-response and timing of human minisatellite mutation induction following radiotherapy.

In 2006 I secured a New Blood Lectureship.

Websites

PubMed at the US National Library of Medicine for this author: Dr CA May

Leicester Research Archive: Dr CA May

Google Scholar: Dr CA May

Teaching

I contribute to the following courses:

BS3031 Human Genetics

MB1005 Genes in Medicine

BS1005 Genes

MB1030 Introduction to Medical Bioscience A

BS2060 Research Skills

MB ChB Phase I Molecules Genes & Disease

 

Publications

 

Research

My recent research has focussed on homologous recombination, principally within the human pseudoautosomal regions. The major pseudoautosomal region (PAR1) on the short arms of the X and Y chromosome, by virtue of being the largest single region of homology between the two sex chromosomes, is the site of obligatory crossing-over in the male germline. As a consequence, this entire 2.7 Mb interval is a recombinationally “hot” domain and therefore an ideal target for investigating the nature of human meiotic recombination. We are using population-based approaches together with family studies and highly sensitive sperm DNA assays to characterize patterns of both meiotic crossover and gene conversion in this region of the genome.  Failure to recombine here  can result in non-disjunction and has been linked with male infertility.

We have also begun to examine the fine-scale distribution of events within the minor pseudoautosomal region (PAR2) at the tips of the long arms of the two sex chromosomes. In contrast to PAR1, the pseudoautosomal nature of PAR2 is specific to humans and is the result of an X-to-Y translocation following the divergence of the human and chimpanzee lineages. Exchange in this region is neither necessary nor perhaps sufficient for the correct segregation of the X and the Y during male meiosis but nonetheless occurs at well above the genome-average rate. In collaboration with Alec Jeffreys’ group this work is providing insight into the inter-play between cis and trans-acting factors and their influence on recombination hotspot activity and distribution.

Cytogenetically-visible large-scale rearrangements of the human genome have long been associated with pathological disorders, but recently large international collaborative efforts such as the HapMap project have highlighted the ubiquity of kilobase-scaled structural variation even in the genomes of apparently healthy individuals. Understanding how these forms of variation arise is therefore of fundamental evolutionary interest and is directly addressable using single-molecule techniques. Within PAR1 such rearrangements have been specifically linked to both idiopathic and syndromal short stature (eg . Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome), with evidence of clustered breakpoints. Using these breakpoint hotspots as a test-bed, we are developing novel assays to both quantify and characterize kilobase-scaled de novo deletions to better understand the dynamics of this class of mutation.

 

Other responsibilities

Undergraduate admissions tutor

 

PhD projects

Search Find a PhD.com for this supervisor: Dr CA May
Departmental PhD Project page for this Supervisor: Dr CA May

 

 

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Contact Details

Department of Genetics
University of Leicester

Adrian Building
University Road
Leicester
LE1 7RH
United Kingdom

Tel: +44 (0)116 252 3374
Fax: +44 (0)116 252 3378
E Mail: genetics@le.ac.uk

Head of Department
Professor Alison Goodall

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