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Lookup NU author(s): Rachel Challis, Dr Edwin Wong, Dr Holly Anderson, Dr Valerie Wilson, Dr Vicky Brocklebank, Professor Claire Harris, Professor Kevin MarchbankORCiD, Professor Tim Goodship, Professor David KavanaghORCiD
This is the authors' accepted manuscript of an article that has been published in its final definitive form by American Society of Nephrology, 2016.
For re-use rights please refer to the publisher's terms and conditions.
The Regulators of Complement Activation cluster at chromosome 1q32 contains the genes encoding the complement regulator factor H and five factor H related proteins. This is an area of the genome that arose from several large genomic duplications and these low copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical haemolytic uraemic syndrome, arising commonly through non-allelic homologous recombination (NAHR). We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3kb deletion which arose through microhomology mediated end joining rather than NAHR. We confirm a transcript from this hybrid gene and demonstrate a secreted protein product. Lacking the recognition domain of factor H, this hybrid protein has impaired cell surface complement regulation. That this arose as a de novo event suggests that this is a dynamic area of the genome where further genomic disorders may arise.
Author(s): Challis RC, Araujo GSR, Wong EKS, Anderson HE, Awan A, Dorman AM, Waldron M, Wilson V, Brocklebank V, Strain L, Morgan BP, Harris CL, Marchbank KJ, Goodship THJ, Kavanagh D
Publication type: Article
Publication status: Published
Journal: Journal of the American Society of Nephrology
Year: 2016
Volume: 27
Issue: 6
Pages: 1617-1624
Print publication date: 01/06/2016
Online publication date: 21/10/2015
Acceptance date: 07/09/2015
Date deposited: 10/03/2016
ISSN (print): 1046-6673
ISSN (electronic): 1533-3450
Publisher: American Society of Nephrology
URL: http://dx.doi.org/10.1681/ASN.2015010100
DOI: 10.1681/ASN.2015010100
PubMed id: 26490391
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