Fig. 2.

Identification of frameshift deletion in BBS7 of rhesus macaques. A) The BBS7 gene has 19 exons and encodes a 715 amino acid protein. A frameshift deletion (c. 160delG) was discovered in exon 3 (dashed red lines). Dots below exons indicate approximate locations of pathogenic frameshift and early termination (red dots) or missense (black dots) mutations in humans with BBS. B) Sanger sequence chromatograms identified homozygous affected monkeys and heterozygous parents. First affected nucleotide is highlighted with dashed black lines. C) Expanded pedigree analysis supports autosomal recessive inheritance. Males are indicated by squares and females by circles. BBS7^−/− affected individuals are indicated with solid fill, while genotyped carriers have partial shading. Unconfirmed parentage is marked with a dashed line. Slashes indicate deceased individuals; note that these include animals ascertained over 3 decades for which death was due to age-related, natural or experimental causes.