Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family

Kariya, Naoyuki; Shimomura, Yutaka; Ito, Masaaki

doi:10.1111/j.0022-202x.2005.23662.x

Cited by 28 publications

(24 citation statements)

References 14 publications

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“…As a next step, we focused on the KAP4 family, which is an ultrahigh-sulfur family on chromosome 17q12-21 . The analysis detected numerous size polymorphisms among the members of this family (Kariya et al, 2005). Like KAP1 members, the differences in size of these KAP4 gene variants almost depend on differences in the length of their open-reading frames; these different reading frames encode variable numbers of cysteine-rich pentapeptide repeat structures in the proteins (Kariya et al, 2005).…”

Section: Size Polymorphisms In Human Kap Genesmentioning

confidence: 94%

Human Hair Keratin-Associated Proteins

Shimomura

Ito

2005

Journal of Investigative Dermatology Symposium Proceedings

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Hair keratin-associated proteins (KAP) are a major component of the hair fiber, and play crucial roles in forming a strong hair shaft through a cross-linked network with keratin intermediate filaments (KIF), which are produced from hair keratins. Recently, the study of human KAP has advanced significantly. So far, five clusters of human KAP genes have been characterized, leading to the identification of more than 80 individual human KAP genes. In situ hybridization studies have demonstrated sequential and spatial expression patterns of these KAP members in differential portions of the hair fiber cortex and cuticle. Furthermore, several human KAP genes have size polymorphisms that are mainly because of variable numbers of cysteine-rich repeat segments, and the patterns of some of these size variants are distinct between different human populations.

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Section: Size Polymorphisms In Human Kap Genesmentioning

confidence: 94%

Human Hair Keratin-Associated Proteins

Shimomura

Ito

2005

Journal of Investigative Dermatology Symposium Proceedings

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“…While length variation in the sequences encoding the cysteine-rich repeat segments has been described in KAP AE AA AD DD AC CC AC AB genes, it has only been reported previously in one family (KAP1) in sheep in which decapeptide length variation also occurs [10] and two families (KAP1 and KAP4) in humans [11,12]. The detection of length variation in the ovine KAP5-4 gene suggests that variation in the number of repeats coding for cysteine-rich segments may be a structural hallmark of some of the KAP genes.…”

Section: Resultsmentioning

confidence: 97%

Analysis of variation in the ovine ultra‐high sulphur keratin‐associated protein KAP5‐4 gene using PCR‐SSCP technique

et al. 2010

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Keratin-associated proteins (KAPs) are one of the main structural components of the wool fibre. Variation in the KAP genes (KRTAPs) may affect the structure of KAPs and hence wool characteristics. In this study, we used PCR-SSCP to analyse ovine KRTAP5-4, a gene encoding a member of the KAP5 family. Five different PCR-SSCP patterns were detected in the 250 sheep that were analysed. Either one or a combination of two patterns was observed for each sheep, which was consistent with these sheep being either homozygous or heterozygous at this locus. DNA sequencing revealed that these patterns represent five different DNA sequences. One of the sequences was identical to a published ovine KRTAP5-4 sequence. The remaining four were unique, but shared a high homology with the published ovine KRTAP5-4 sequence, suggesting that these sequences represent allelic variants of KRTAP5-4. There were a total of six SNPs and one length polymorphism in the sequences. Of the five SNPs found in the coding region, four were non-synonymous SNPs and would result in amino acid changes. The length polymorphism would affect the cysteine content of the putative peptide and this along with the SNPs may have an impact on the structure of KAP5-4, and hence affect wool traits.

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“…These variations were due to differences in the lengths of the sequences that encoded the cysteine-rich repeat structures (Shimomura et al, 2002;Kariya et al, 2005). These results led us to search for size polymorphisms in the other human KRTAP families.…”

Section: Discussionmentioning

confidence: 99%

“…Most of the KRTAPs in this cluster typically contain a high degree of double cysteine-containing pentapeptide repeat structures . We previously reported that differences in the length of the sequences encoding the cysteine-rich repeat segments in the human KRTAP1 and KRTAP4 genes are the basis of the various size polymorphisms that are observed (Shimomura et al, 2002;Kariya et al, 2005). These results led us to postulate that the other KRTAP gene families in this cluster may also possess size polymorphisms.…”

Section: Introductionmentioning

confidence: 98%

Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family

Fujikawa

Fujimoto

Farooq

et al. 2012

Journal of Investigative Dermatology

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Hair keratin-associated proteins (KRTAPs) are one of the major structural components of the hair shaft. Approximately 100 KRTAP genes have been identified in humans to date, with each of the genes classified into a number of families based on their sequence homology and the nature of the repeat structures. The biophysical features of KRTAPs, however, have remained largely unknown. In this study, we investigated the characteristics of the human KRTAP2 family members at the DNA, RNA, and protein levels. We initially found that these genes had various size polymorphisms that were mainly due to differences in the length of the 3'-noncoding sequences. Reverse transcriptase-PCR experiments further detected the presence of KRTAP2 transcripts in plucked human hairs. Using indirect immunofluorescence with an anti-KRTAP2 antibody, we found that there was a predominant expression of the KRTAP2 proteins in the keratinizing zone of the human hair shaft cortex. In addition, we showed that the KRTAP2 proteins interacted with each other and preferentially bound to hair keratins, but not to epithelial keratins. Finally, we determined that the head domain of the hair keratins was essential for the affinity to KRTAP2 proteins. Our results further enhance the crucial roles of KRTAPs in hair shaft keratinization in humans.

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Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family

Cited by 28 publications

References 14 publications

Human Hair Keratin-Associated Proteins

Human Hair Keratin-Associated Proteins

Analysis of variation in the ovine ultra‐high sulphur keratin‐associated protein KAP5‐4 gene using PCR‐SSCP technique

Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family

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