Skip to main content
. 2010 Apr 9;86(4):632–638. doi: 10.1016/j.ajhg.2010.02.025

Figure 2.

Figure 2

Identification of a Mutation in the KRT74 Gene

(A) Schematic representation of the candidate region harboring the ADWH gene. The candidate region and the type II keratin gene cluster are boxed in yellow and red, respectively, and localization of four IRS-specific keratin genes, KRT71–74, is shown at the bottom.

(B) A heterozygous mutation c.444C > G (p.Asn148Lys) in the KRT74 gene in affected individuals from the family ADWH1.

(C) Segregation analysis of the mutation c.444C > G in the KRT74 gene. PCR products of 338 bp from the mutant (Mut) allele were digested into 234 bp and 104 bp fragments with the restriction enzyme AcuI, whereas those from the wild-type (Wt) allele were not digested. Affected individuals are indicated in red and show the digested bands of 234 bp and 104 bp from the Mut allele as well as the undigested band of 338 bp from the Wt allele. MWM, molecular weight markers. C, control individual.

(D) Multiple-amino-acid sequence alignment of the helix initiation motif (HIM) of human type II keratins. K74 (K6irs4) is indicated in red. The Asn residue at amino acid position 9 in the HIM, which is invariant and completely conserved among all human type II keratins, is highlighted in yellow.