Extensive genomic and functional polymorphism of the complement control proteins |
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| Authors: | Craig A. McLure Joseph F. Williamson Louise A. Smyth Suraksha Agrawal Susan Lester John A. Millman Peter J. Keating Brent J. Stewart Roger L. Dawkins |
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| Affiliation: | (1) CY O’Connor ERADE Village, P.O. Box 5100, Canning Vale, Western Australia, 6155, Australia;(2) Centre for Molecular Immunology and Instrumentation, University of Western Australia, Nedlands, Western Australia, 6907, Australia;(3) Department of Medical Genetics, Sanjay Gandhi Institute of Medical Sciences, Lucknow, 226014, India;(4) Arthritis Research Laboratory, Hanson Institute, Frome Road, Adelaide, South Australia, 5000, Australia;(5) TAFEWA Swan Campus, Hayman Road, Bentley, Western Australia, 6102, Australia |
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| Abstract: | Using combinations of genomic markers, we describe more than 20 distinct ancestral haplotypes (AH) of complement control proteins (CCPs), located within the regulators of complement activation (RCA) alpha block at 1q32. This extensive polymorphism, including functional sites, is important because CCPs are involved in the regulation of complement activation whilst also serving as self and viral receptors. To identify haplotypes, we used the genomic matching technique (GMT) based on the pragmatic observation that extreme nucleotide polymorphism is packaged with duplicated sequences as polymorphic frozen blocks (PFB). At each PFB, there are many alternative sequences (haplotypes) which are inherited faithfully from very remote ancestors. We have compared frequencies of RCA haplotypes and report differences in recurrent spontaneous abortion (RSA) and psoriasis vulgaris (PV). |
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| Keywords: | Ancestral haplotypes Complement control proteins Autoimmunity Genomic matching technique Regulators of complement activation |
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