Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X- Linked Hypohidrotic Ectodermal Dysplasia Mutations Alex W. Monreal,

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Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X- Linked Hypohidrotic Ectodermal Dysplasia Mutations Alex W. Monreal, Jonathan Zonana, Betsy Ferguson The American Journal of Human Genetics Volume 63, Issue 2, Pages 380-389 (August 1998) DOI: 10.1086/301984 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Comparison of the presumptive EDA1 isoform II and Ta proteins. Amino acid identities are indicated by an asterisk (*). The putative transmembrane domain is boxed. A vertical line designates the start of the protein sequence that is unique to isoform II. The G1y-X-Y domain is indicated by boldface type, with the 2–amino-acid interruption indicated by shadowed lettering. A blackened circle is shown above two potential N-linked glycosylation sites, and both C-terminal cysteines are indicated by underlining and boldface type. The American Journal of Human Genetics 1998 63, 380-389DOI: (10.1086/301984) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Gene structure and predicted protein products of EDA1. The anticipated protein products of the two splice forms are depicted in panels A and C. The vertical lines separate protein regions encoded by different exons. Transmembrane (“TM”) and collagen-like (Gly-X-Y) domains are shown. The relative positions of the mutations identified in this article are depicted in panel C, with missense mutations indicated by blackened triangles, deletions indicated by unblackened diamonds, and a nonsense mutation indicated by an asterisk (*). Mutations in exon 1, found in a previous study, are not included in this diagram. The EDA1 gene structure is depicted in panel B, with the numbered boxes representing exons and the connecting lines representing intronic regions. The start and stop codons are indicated by “ATG” and “TAG.” The American Journal of Human Genetics 1998 63, 380-389DOI: (10.1086/301984) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Northern analysis of EDA1 gene expression in human tissues. An EDA1 probe, including exons 1–9, was hybridized with polyA-enriched RNA extracted from the tissues indicated above the figure. The migration of RNA size markers is shown on the left. The American Journal of Human Genetics 1998 63, 380-389DOI: (10.1086/301984) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 Agarose-gel analysis of Del794–829. Exon 5 was PCR amplified from samples from ED1050 and ED1204 family members and then was separated on a 3% agarose gel and stained with ethidium bromide. Circles represent females, with a dot indicating XLHED carrier status. Blackened boxes represent affected males. Molecular size markers are shown in lane 1, and control DNAs from unrelated, unaffected males are shown in lanes 2 and 8. The American Journal of Human Genetics 1998 63, 380-389DOI: (10.1086/301984) Copyright © 1998 The American Society of Human Genetics Terms and Conditions