Kirk Mykytyn, Darryl Y. Nishimura, Charles C

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Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1) Kirk Mykytyn, Darryl Y. Nishimura, Charles C. Searby, Gretel Beck, Kevin Bugge, Heidi L. Haines, Alberto S. Cornier, Gerald F. Cox, Anne B. Fulton, Rivka Carmi, Alessandro Iannaccone, Samuel G. Jacobson, Richard G. Weleber, Alan F. Wright, Ruth Riise, C.M. Raoul Hennekam, Güven Lüleci, Sibel Berker-Karauzum, Leslie G. Biesecker, Edwin M. Stone, Val C. Sheffield The American Journal of Human Genetics Volume 72, Issue 2, Pages 429-437 (February 2003) DOI: 10.1086/346172 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotype analysis of the BBS1 locus. A, Summary of the haplotype analysis of 41 chromosomes carrying the M390R mutation. The number of times each haplotype was observed is shown below each haplotype. Differences from the conserved haplotype are indicated in red. Of the 41 chromosomes, 19 correspond to a single haplotype, and 38/41 chromosomes differ at no more than one marker. B, Haplotype analysis of seven chromosomes carrying a non-M390R mutation in individuals of northern European descent. Differences from the M390R-associated haplotype are indicated in red. C, Haplotype analysis of the three disease-associated alleles identified in the Puerto Rican population. Differences from the M390R-associated haplotype are indicated in red. D, Ten non–disease-associated haplotypes from Puerto Rican BBS1 heterozygous individuals. Differences from the M390R-associated haplotype are indicated in red. WT = wild type. The American Journal of Human Genetics 2003 72, 429-437DOI: (10.1086/346172) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Evolutionary conservation of BBS1. A, Alignment of human BBS1 amino acid sequence with mouse Bbs1. Identical amino acids are shaded in black and conserved amino acids are shaded in gray. B, Alignment of human (Hsa) BBS1 peptide sequence and mouse (Mmu), bovine (Bta), zebrafish (Dre), and honeybee (Ame) peptide sequences surrounding the methionine at position 390 (indicated by an arrow). The American Journal of Human Genetics 2003 72, 429-437DOI: (10.1086/346172) Copyright © 2003 The American Society of Human Genetics Terms and Conditions