Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development K. Kosaki,

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Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development K. Kosaki, R. Kosaki, M.T. Bassi, M. Lewin, J. Belmont, G. Schauer, B. Casey The American Journal of Human Genetics Volume 64, Issue 3, Pages 712-721 (March 1999) DOI: 10.1086/302289 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Genomic organization of human LEFTY A and LEFTY B. Top, long-range restriction map of PAC clone RPCI-73A4, which contains both genes. Center, intron-exon organization. Coding regions of exons are indicated by darkened boxes and untranslated regions by open boxes. Numbered arrows correspond to primers used in SSCP analysis (see table 1). Hatched lines show location of amino acids encoded by each exon within the final protein products. Bottom, Corresponding cDNA clones . The American Journal of Human Genetics 1999 64, 712-721DOI: (10.1086/302289) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 cDNA sequence and deduced amino acid sequence of LEFTY B. The American Journal of Human Genetics 1999 64, 712-721DOI: (10.1086/302289) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 a, Protein sequence alignment of the Lefty homologues. Numbers on the right refer to amino acid position. Putative signal peptide and RXXR (proteolytic cleavage) sites are underlined. The six cysteine residues conserved among TGF-β family members are highlighted. The R314X and S342K mutations identified in LEFTY A are located in the region that forms the cysteine knot (see text). b, Pairwise comparison of amino acid identity among Lefty-related proteins. The American Journal of Human Genetics 1999 64, 712-721DOI: (10.1086/302289) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 RARE of Lefty1 (Oulad-Abdelghani et al. 1998), LEFTY A, and LEFTY B, identified in the 5′ flanking region of exon 1. Two hexamers (palindrome position in boldface) flank a conserved 8-bp spacer (boxed). The American Journal of Human Genetics 1999 64, 712-721DOI: (10.1086/302289) Copyright © 1999 The American Society of Human Genetics Terms and Conditions