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. 2011 Jan 7;88(1):106–114. doi: 10.1016/j.ajhg.2010.12.004

Figure 4.

Figure 4

Identification of NEK1 Mutations as Underlying Cause of SRPS Majewski Type by Positional Cloning

(A) Haplotype structure analysis in the two consanguineous families 1 and 2 refined a locus to 18.65 cM / 17.36 Mb by homozygosity mapping including 54 RefSeq and hypothetical genes on chromosome 4q32.1-q34.3.

(B) Sanger sequencing of the prioritized functional candidate gene NEK1 revealed a homozygous nonsense mutation in P1 (p.R127X), a homozygous splice site mutation in P2 (c.869-2A>G), and a heterozygous insertion in P3 (c.1640_1641_insA).

(B, C) Schematic drawing of domain-coding exons according to the prediction of the domain structure in mice and protein mice-human homology. Abbreviations are as follows: kinase domain, N-terminal kinase domain (green); basic, basic domain (light blue); NLS, nuclear localization signal (gray); CC1-4, coiled-coil domains (red and orange); NES1-2, nuclear export sequence (yellow).