Figure 1.

The MCPH proteins, probable functional domains, and sites of mutations. The MCPH loci and protein names are given above a cartoon of the protein. The known or well-predicted domains are shown. Reported mutations are shown at their positions within the gene: nonsense mutations as filled arrows, splicing mutations that lead to premature termination codons as blackened arrows with marked tail, and a missense mutation as an unfilled arrow. Parallel lines indicate the translocation breakpoint in the ASPM gene described by Pichon et al. (2004). Each MCPH protein is marked with the known or hypothesized functional domains. Br is a BRCT Breast Cancer Suppressor Protein (BRCA1) carboxy-terminal domain, pfam00533. SMC is a chromosome segregation ATPase domain, COG1196, but all are only possible predictions. CH is calponin homology domain, pfam00307. IQ repeats is an isoleucine-glutamine calmodulin-binding domain, pfam00612. Tcp is a T-complex protein 10 C-terminus domain, pfam07202.