Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 211 Michael A. Rogers, Hermelita Winter,

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Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 211 Michael A. Rogers, Hermelita Winter, Iris Beckmann, Jürgen Schweizer Journal of Investigative Dermatology Volume 122, Issue 1, Pages 147-158 (January 2004) DOI: 10.1046/j.0022-202X.2003.22128.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Physical map of the chromosome 21q23 KAP gene domain.Black lines show relevant portions of DNA sequences AP001754 and AL163300 (AP001755), which harbor this domain. Black boxes represent KAP genes, white boxes KAP pseudogenes. Horizontal black arrows denote the direction of gene transcription. The numbers below the boxes indicate the name of the respective KAP gene (e.g., 10.1=KAP10.1). ψ before a number designates a KAP pseudogene. Numbers in bold show KAP genes for which a corresponding cDNA/3-RACE product has been isolated. Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Division of human KAP into families via CLUSTREE analysis. Multiple amino acid alignments of the KAP identified in this paper were performed together with representative members of the human KAP1-KAP5, KAP9-KAP13, and KAP15-KAP17 as well as KAP family members from other species using the CLUSTAL program. Graphical analyses of the homology data were performed using CLUSTREE. Names in black show previously described human KAP family members characterized in this laboratory; names in violet designate previously described human KAP5 family members; names in red indicate mouse KAP sequences; names in blue designate sheep KAP sequences. The CLUSTAL alignment allowed the division of KAP proteins into families, but was not statistically significant enough for determination of paralogous evolutionary relationships. *KAP23.1 did not segregate correctly. Sequence accession numbers: mouse KAP9.1 (m27685), mKAP11.1 (uo3686), hacl1 (mKAP12.1, af081797), mEMB-UHSP (mKAP13.1, af031485), mKAP14.1 (d85925), sheep KAP4.1 (x73462), sKAP5.1 (x55294), sKAP5.4 (x73434), sKAP5.5 (x73435), sKAP10.1 found inPowell and Rogers (1997), human KAP5 members KERA (aj006692), KERB (aj006693), and UHSP3 (x63755). Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Multiple sequence alignments of KAP10 family members. The amino acid sequences shown are ORF translations of the respective gene sequences. Multialignments were constructed using the CLUSTAL program. The asterisk beside one protein name designates sheep KAP10.1 (Powell and Rogers, 1997). Asterisks below the amino acid sequence indicate amino acid identity; dots below the sequences show amino acid homology; hyphens found within the sequences are gaps induced by the CLUSTAL software program. Sequences in bold show KAP proteins for which the respective cDNA has been isolated. Repeat structures are boxed. Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Multiple sequence alignment of KAP12 family members. For details, see Figure 3. An asterisk beside one protein name indicates mouse KAP12.1 (Cole and Reeves, 1998). Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Regions of mRNA expression of KAP10 family members. The numbers in the upper left-hand corner of each panel designate the name of the individual KAP members. co, cortex; cu, hair fiber cuticle; icu, inner root sheath cuticle; dp, dermal papilla. Bar: 150 μm. Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 6 Regions of mRNA expression of KAP12 family members. For details see Figure 5. (A), (B) Enlargements of KAP12.2 and KAP12.4, showing the absence of staining in the inner root sheath cuticle. Bar: (A) 150 μm; (B) 50 μm. Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 7 Bioinformatic analysis of KAP10 and KAP12 promoter regions. The regions 1 kb upstream of the ORF of all KAP10/KAP12 genes described here were analyzed for consensus enhancer sequences using the TRANSFAC database (see Methods;Wingender et al, 1997). The horizontal black scale at the top shows the distance from the initiation of translation codon in base pairs. Black lines denote the region of individual gene analysis. Boxes above the line are positive strand elements; boxes below the line are negative strand elements. Orange boxes, TBP enhancer; green boxes, ETS-1 enhancer; light blue boxes, CTCF enhancer; yellow boxes, AML1 enhancer; violet boxes, MZF1 enhancer; red boxes, heat shock factor enhancer; white boxes, HOXC12/HOXC13 enhancer. Black boxes indicate further enhancer elements that are named in the graphic. Journal of Investigative Dermatology 2004 122, 147-158DOI: (10.1046/j.0022-202X.2003.22128.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions