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. Author manuscript; available in PMC: 2008 Aug 1.
Published in final edited form as: Nat Genet. 2007 Dec 23;40(2):232–236. doi: 10.1038/ng.2007.80

Figure 1. Schematic of the Sckl4 critical region and the PCNT gene depicting location of identified mutations.

Figure 1

(a) Genetic map of chromosome 21q22.3 with the refined Sckl4 locus, defined by overlapping homozygous chromosomal segments in two consanguineous families, and extending over a 2.9 Mbp interval between SNP markers rs1598206 and rs2330591 (43,883,204 – 46,751,852, UCSC Browser, March 2006 Assembly). Genetic distances, Decode genetic map. (b) PCNT spans 122kb of genomic sequence in 47 exons and encodes a 3336 amino acid protein. (c) Sequence electropherograms of PCNT mutations. (d) Schematic of the pericentrin protein indicating position of identified mutations and protein structure. Pericentrin contains internal repeats (red), coiled-coil regions (green), and a PACT domain (blue). Protein structural regions as predicted by SMART. Sites of interaction with PKA, PKC βII and calmodulin indicated by asterisks.