Variation in the HLA-G Promoter Region Influences Miscarriage Rates

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Variation in the HLA-G Promoter Region Influences Miscarriage Rates Carole Ober, Carrie L. Aldrich, Inna Chervoneva, Christine Billstrand, Fedik Rahimov, Heather L. Gray, Terry Hyslop The American Journal of Human Genetics Volume 72, Issue 6, Pages 1425-1435 (June 2003) DOI: 10.1086/375501 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 HLA-G 5′-upstream regulatory region (modified from Solier et al. 2001). “+1” designates the transcriptional start site. Cis-acting regulatory elements are shown: TATA = TATA box; CCAAT = CAAT box; S/X1= Pan HLA regulatory elements; ISRE = interferon-specific regulatory element; EnhA = enhancer A; HSE = heat shock protein element; GAS = gamma (interferon) activated site; LCR = locus control region (also known as “TSRE” [tissue-specific regulatory element]). The LCR (or TSRE) contains the regulatory elements that direct trophoblast-specific expression (Schmidt and Orr 1995). The American Journal of Human Genetics 2003 72, 1425-1435DOI: (10.1086/375501) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotypes comprised of 18 polymorphisms in the 5′-upstream regulatory region, in exons 1 and 8, and their associated HLA-G allele. Frequencies of haplotypes in the Hutterites are shown. Alleles shown as black letters on a white background correspond to the chimp sequence and are presumed to be ancestral; alleles shown as white letters on a black background are presumed to be derived alleles. Alleles at two polymorphic sites in exon 1 are shown for comparison with earlier studies (Hviid et al. 1999). The American Journal of Human Genetics 2003 72, 1425-1435DOI: (10.1086/375501) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 Sequence flanking the −725C/G polymorphism in bisulfite-treated DNA. A, Genotype −725 CC. B, Genotype −725 GG. The American Journal of Human Genetics 2003 72, 1425-1435DOI: (10.1086/375501) Copyright © 2003 The American Society of Human Genetics Terms and Conditions