Autozygosity mapping
Welcome to the Centre for Autozygosity Mapping
Autozygosity.org is a UK and International resource for all those interested in the identification of recessive disease genes through autozygosity mapping in consanguineous families. Our work is funded by the MRC, the Wellcome Trust and the Department of Health's NEAT (New and Emerging Applications of Technology) scheme.
We have a long track record of achievement in this field and are active in the development of new methodologies and analysis of new disorders. We invite new collaborations with colleagues from the UK and worldwide. We will be making all our resources available on this website.
Why...?
The principal driver for our studies is clinical need. In addition, our repeated experience has been that autozygosity mapping leads directly to important insights into the biological mechanisms underlying disease development.
This image shows the dimeric TREX1 nuclease (DnaseIII) complexed to DNA (gold, at bottom). Arg-114 of each subunit is shown in yellow, buried at the dimer interface. Mutation of this residue to His is the commonest cause of Aicardi-Goutières syndrome (AGS), a severe infantile neurological disorder.
TREX1 is one of four nuclease genes mutated in AGS, identified through autozygosity mapping by Yanick Crow and colleagues. TREX1 mutations are also found in a spectrum of related, allelic disorders, including Cree encephalitis and familial chilblain lupus.
The involvement of cellular nucleases in this group of autoimmune disorders was previously unsuspected, and this work is having an important impact on research into lupus-related immunological disorders.
The autozygosity.org site will be frequently updated over the next few weeks. If the information you are looking for is not yet available, please come back soon, or send us an indication of your interest in autozygosity mapping here.
Café-au-lait skin pigmentation in a child with a brain tumour or other malignancy may be a pointer to a recessive inherited defect of DNA repair.