Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes Eli Sprecher, Jouni Uitto, Gabriele Richard Journal of Investigative Dermatology Volume 119, Issue 3, Pages 692-698 (September 2002) DOI: 10.1046/j.1523-1747.2002.01855.x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions
Figure 1 Haplotype analysis of the NFJS family and the DPR family for polymorphic markers on chromosome 17q11.2-q21.(a) The NFJS family; (b) the DPR family. Filled symbols represent affected individuals. The common disease-associated haplotypes are shown in boxes, flanking markers are indicated in bold. Arrows mark critical recombination events defining the genetic interval. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions
Figure 2 Clinical features of NFJS and DPR. (a-d, g) NFJS; (e, f) DPR. (a) Absence of dermatoglyphics on the index fingerpad; (b) reticulate and macular pigmentation over the right side of the neck; (c) punctate plantar keratoses and (d) focal palmar keratoderma in NFJS. (e) Macular facial hyperpigmentations and diffuse alopecia in a female with DPR (f) and dystrophia mediana canaliformis-like abnormality of the median fingernail in DPR. (g) Enamel defects and teeth malplacement in NFJS. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions
Figure 3 Multipoint linkage map across the candidate region on 17q11.2-q21 for the NFJS family.Arrows indicate the position of the seven microsatellite markers selected for analysis. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions
Figure 4 Genetic and physical chromosomal maps of the NFJS critical interval.Upper panel, genetic; lower panel, physical. The relative position of selected polymorphic markers and genes is shown according to the Genethon genetic map or the UDB integrated map (upper panel) as well as their location on the NCBI contig for chromosome 17 (lower panel). Sequencing data are not yet available for the boxed regions. The gray bars indicate the critical disease gene intervals in both NFJS and DPR families. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions
Figure 5 Structure and expression pattern of KRT24 (FLJ20261) on 17q11.2.(a) Exon-intron organization. (b) Amino acid sequence alignment of several type I keratins with KRT24. Conserved amino acids are shown in boxes. The numbers on the left indicate respective amino acid positions. Note the high degree of sequence similarity between the novel gene and KRT10, especially across the central a-helical rod domain. E1-E2: end domains; V1-V2: variable head and tail domain; 1A-1B-2A-2B: parts of the central helical rod domain; L1-L1/2-L2: non-helical linker regions. (c) Tissue-specific transcription. Intron-crossing primers for KRT24 and GAPDH (control) were used to amplify cDNA obtained from various tissues. Specific expression of KRT24 was observed in keratinocytes, colon, spleen, thymus, testis, and placenta. Positive controls consisted in control cDNA (Clontech) amplified for GAPDH; negative controls were PCR amplified without cDNA. Journal of Investigative Dermatology 2002 119, 692-698DOI: (10.1046/j.1523-1747.2002.01855.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions