Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito

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Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family Naoyuki Kariya, Yutaka Shimomura, Masaaki Ito Journal of Investigative Dermatology Volume 124, Issue 6, Pages 1111-1118 (June 2005) DOI: 10.1111/j.0022-202X.2005.23662.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Physical map of the human KAP4 genes. Black lines represent fully sequenced BAC clones, AC006070, AC100808, and AC007455. Blue and Green lines show partially sequenced BAC clones AC025904 and AC037482, respectively. The text below or above the lines indicates the BAC clone accession numbers and the size of each clone in bp. The red line refers to PAC10, isolated byRogers et al (2001). Green boxes indicate the KAP genes; the white box shows the KAP4 pseudogene. The numbers just below or above the boxes refer to the names of the respective KAP genes. The position and size of the open reading frames of the KAP4 genes are also indicated. Black arrowheads show the direction of gene transcription. The purple bar between KAP4.6 and KAP4.12 on AC025904 indicates a region closed by long-range PCR (Rogers et al, 2001). Note that three KAP2 genes and one KAP2 pseudogene, which are located between KAP4.7 and KAP2.1A, are not shown. Journal of Investigative Dermatology 2005 124, 1111-1118DOI: (10.1111/j.0022-202X.2005.23662.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Nucleotide sequences of the KAP4 genes and their size polymorphisms, and the deduced amino acid sequences., KAP4.11/KAP4.14. Asterisks below the nucleotide sequence indicate sequence identity. Amino acid differences between the sequences are indicated in bold. The primer sequences for PCR are underlined. Dashes denote gaps in the sequence to maximize alignment. Double cysteine-containing pentapeptide repeats are boxed. The accession numbers for the KAP4 genes are given in Figure 1. Journal of Investigative Dermatology 2005 124, 1111-1118DOI: (10.1111/j.0022-202X.2005.23662.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Detection of size polymorphisms in the KAP4 genes by PCR. PCR amplification of the KAP4 genes in 20 unrelated Japanese individuals (nos. 1–20) (a), and two Japanese families (b). The names of the polymorphic alleles corresponding to the amplified fragments and the size of the products are indicated on the right-hand side. MWM, molecular weight markers. Journal of Investigative Dermatology 2005 124, 1111-1118DOI: (10.1111/j.0022-202X.2005.23662.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 RT-PCR expression of the KAP4 genes and their size variants. RT-PCR amplification of the mRNAs of KAP4.3-v1/KAP4.3-v2 (lane 1), KAP4.5/KAP4.5-v1 (lane 3), KAP4.7/KAP4.7-v1 (lane 5), KAP4.8/KAP4.8-v1 (lane 7), KAP4.9/KAP4.9-v1 (lane 9), KAP4.11/KAP4.14 (lane 11), KAP4.12/KAP4.12-v1 (lane 13), and GAPDH (lane 15) from the follicular RNA of a Japanese individual (subject no. 6). GAPDH mRNA, of 597 bp, was amplified as a control, using primers located in exons 3 and 7 of the GAPDH gene (lane 15). Note that the genomic 1101 bp GAPDH fragment was clearly absent from lane 15. PCR without reverse transcription did not lead to any products (lanes 2, 4, 6, 8, 10, 12, 14, and 16), indicating that there was no genomic DNA contamination in the samples. +/- denotes reactions with or without reverse transcription. MMW, molecular weight markers. Journal of Investigative Dermatology 2005 124, 1111-1118DOI: (10.1111/j.0022-202X.2005.23662.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Allele frequencies of the KAP4 genes and their respective polymorphisms in 50 Japanese individuals. To aid understanding, a physical map of the KAP4 gene domain on chromosome17q is shown above the tables of allele frequencies. Journal of Investigative Dermatology 2005 124, 1111-1118DOI: (10.1111/j.0022-202X.2005.23662.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions