Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans Vanita Berry, Peter Francis, M. Ashwin Reddy,

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Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans Vanita Berry, Peter Francis, M. Ashwin Reddy, Dean Collyer, Eranga Vithana, Ian MacKay, Gary Dawson, Alisoun H. Carey, Anthony Moore, Shomi S. Bhattacharya, Roy A. Quinlan The American Journal of Human Genetics Volume 69, Issue 5, Pages 1141-1145 (November 2001) DOI: 10.1086/324158 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Direct illumination (A) and retroillumination (B) of posterior polar cataract observed in the 11-year-old boy (V:1) in the family with CPP2. The American Journal of Human Genetics 2001 69, 1141-1145DOI: (10.1086/324158) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Family with CPP2. Square symbols denote males; circles denote females; affected individuals are denoted by black symbols. Autosomal dominant inheritance is suggested both by the presence of affected males and females in each generation and by male-to-male transmission. The American Journal of Human Genetics 2001 69, 1141-1145DOI: (10.1086/324158) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Sequence analysis of CRYAB in an unaffected individual (A) and an affected individual (B), both from the family with CPP2. The American Journal of Human Genetics 2001 69, 1141-1145DOI: (10.1086/324158) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 4 Protein alignment depicting similarity of human αB- and αA-crystallin with those of mouse, cow, rabbit, and chicken. Human αB-crystallin shows the highest homology, over its entire length, to αB-crystallins of rabbit, cow, mouse, and chicken, with identity scores of 98%, 97%, 97%, and 76%, respectively. Human αB-crystallin has 55% amino acid identity with αA-crystallin of human and of cow. Amino acids that exhibit complete identity across species are boxed. The aberrant protein produced as a result of the deletion mutation, 450delA, is shown with its 35 novel residues (blue) after the 149th residue of the wild- type αB-crystallin (arrow). The amino acid residue mutated (R120G [red]) in desmin-related myopathy is also shown. The American Journal of Human Genetics 2001 69, 1141-1145DOI: (10.1086/324158) Copyright © 2001 The American Society of Human Genetics Terms and Conditions