Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1

Rogers, Michael A.; Langbein, Lutz; Winter, Hermelita; Ehmann, Claudia; Praetzel, Silke; Schweizer, Jürgen

doi:10.1074/jbc.m206422200

Cited by 103 publications

(118 citation statements)

References 43 publications

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“…Sequence comparisons of the genes for wool proteins showed that there are at least eight families of cysteine-rich proteins and two main groups with more than twenty glycine/tyrosine-rich proteins . Studies of the human genome for equivalent genes encoding glycine-tyrosine rich proteins identified a domain of 17 genes on chromosome 21q22.1 (Rogers et al, 2002). Furthermore, on the same domain seven KAP genes for high-sulphur proteins were located which extends an earlier study that revealed a cluster of 37 genes for the sulphur-rich KAP group ) on chromosome 17q12-2 interestingly within a domain of Type I IF genes and could be grouped into seven gene families.…”

Section: The Keratin and Keratin-associated Proteins Expressed In Thesupporting

confidence: 64%

Hair follicle differentiation and regulation.

Rogers¹

2004

Int. J. Dev. Biol.

180

158

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Ten years ago, Hardy (1992) wrote a timely review on the major features of hair follicle development and hair growth which she referred to as a secret life. Many of these secrets are now being revealed. The information discussed in this brief review comprises the structure of the hair and hair follicle, the continuing characterisation of the genes for keratin and keratin associated proteins, the determination of the location of their expression in the different cell layers of the hair follicle, molecular signals which control keratin gene expression and post-translational events in the terminal stages of hair formation.

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Section: The Keratin and Keratin-associated Proteins Expressed In Thesupporting

confidence: 64%

Hair follicle differentiation and regulation.

Rogers¹

2004

Int. J. Dev. Biol.

180

158

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“…However, recent reports have demonstrated the correlation between peridermal phenotype and the expression of genes clustered in the KAP complex in mice (Cui et al, 2007). The genes in this complex have been very well characterized with respect to genomic arrangement and expression patterns in human hair (Rogers et al, 2002). Of these clustered genes Krtap13, 2310034C09Rik and 2310057N15Rik, which are specifically expressed in mouse periderm, were the most upregulated genes in Cyp26b1 -/-skin.…”

Section: Discussionmentioning

confidence: 99%

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

Okano¹,

Lichti²,

Mamiya³

et al. 2012

Journal of Cell Science

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SummaryThe process by which the periderm transitions to stratified epidermis with the establishment of the skin barrier is unknown. Understanding the cellular and molecular processes involved is crucial for the treatment of human pathologies, where abnormal skin development and barrier dysfunction are associated with hypothermia and perinatal dehydration. For the first time, we demonstrate that retinoic acid (RA) levels are important for periderm desquamation, embryonic skin differentiation and barrier formation. Although excess exogenous RA has been known to have teratogenic effects, little is known about the consequences of elevated endogenous retinoids in skin during embryogenesis. Absence of cytochrome P450, family 26, subfamily b, polypeptide 1 (Cyp26b1), a retinoic-aciddegrading enzyme, results in aberrant epidermal differentiation and filaggrin expression, defective cornified envelopes and skin barrier formation, in conjunction with peridermal retention. We show that these alterations are RA dependent because administration of exogenous RA in vivo and to organotypic skin cultures phenocopy Cyp26b1 -/-skin abnormalities. Furthermore, utilizing the Flaky tail (Ft/Ft) mice, a mouse model for human ichthyosis, characterized by mutations in the filaggrin gene, we establish that proper differentiation and barrier formation is a prerequisite for periderm sloughing. These results are important in understanding pathologies associated with abnormal embryonic skin development and barrier dysfunction.

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“…There is also a report on the polymorphism of the ovine KAP13-3 gene, and has identified 5 KRTAP13-3 alleles (Gong et al 2011b). Although the KAP13-3 gene has been detected in humans, cattle, and sheep, it has not yet been identified in goats (Rogers et al 2002;Zimin et al 2009). …”

Section: Introductionmentioning

confidence: 99%

“…Recent studies have characterized 25 human KAP gene families in humans, located in 5 domains (Shimomura & Ito 2005). In humans, KAP13, the largest HS-KAP family, consists of four members (Rogers et al 2002). However, only one KAP13 gene, KRTAP13-1, has been reported in goats.…”

Section: Introductionmentioning

confidence: 99%

“…KAP4, KAP5, KAP9, and KAP 17 are ultra-high-sulfur families (UHS-KAPs), and they contain more than 30 mol% cysteine. KAP6-8 and KAP18-22 are highglycine-tyrosine families (HGT-KAPs) (Rogers et al 2002;Gong et al 2011a). KAPs are believed to play a critical role in determining the character of hair and wool fibers (Rogers et al 2002;Fang et al 2010).…”

Section: Introductionmentioning

confidence: 99%

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Molecular characterization of caprineKRTAP13-3in Liaoning cashmere goat in China

Liu

Wang

et al. 2013

Journal of Applied Animal Research

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Keratin-associated proteins are a main structural component of hair and wool fibers and may have effects on their characteristics. There are four KAP13 gene members that have been reported in humans, and the KAP13-3 gene has been identified in sheep and cattle, but it has not yet been identified in goats. This led us to search for the caprine KAP13-3 gene. In this study, the caprine KAP13-3 gene was polymerase chain reaction (PCR) amplified, and PCR single-stranded conformational polymorphism (PCR-SSCP) analysis was used to detect genetic variation in 214 Liaoning cashmere goats from China. PCR amplicons of 559 bp were obtained. Sequencing of the amplicons confirmed eight different sequences, and they were named alleles AÁH. All of these sequences showed a high sequence homology to known KRTAP13-3 sequences from sheep and cattle. Nine nucleotide substitutions were identified within the KRTAP13-3 coding region, and all of these were nonsynonymous. All sequences showed an open reading frame of 471 nucleotides encoding 156 amino acids. This polypeptide contained high levels of serine (23.08Á23.72 mol%), cysteine (10.26Á11.54 mol%), and threonine (5.66 mol%). The polypeptide had high calculated pI values (9.02Á9.59). The variation reported in the caprine KAP13-3 gene might affect gene expression, primary protein structure, and the character of the resultant cashmere fibers.

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Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1

Cited by 103 publications

References 43 publications

Hair follicle differentiation and regulation.

Hair follicle differentiation and regulation.

Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development

Molecular characterization of caprineKRTAP13-3in Liaoning cashmere goat in China

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