Mammalian keratin gene families: organisation of genes coding for the B2 high-sulphur proteins of sheep wool

Powell, Barry C.; Sleigh, M.J.; Ward, Kevin; Rogers, George E.

doi:10.1093/nar/11.16.5327

Cited by 70 publications

(41 citation statements)

References 45 publications

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“…Solid boxes frame the putative pentapeptide repeats described in the text. The dotted boxes show the decapeptide repeats described in sheep KAP1 family proteins (1,7,8). The hatched boxes below the sequence indicate conserved, non-repetitive regions.…”

Section: Discovery Of a Domain Of High/ultrahigh Sulfur Kapmentioning

confidence: 99%

“…In addition, a 20-amino acid subdomain downstream of this region (ASCCRPSYCGQSCCRP(A/V)CCC) is completely conserved in all species examined. The KAP1 proteins contain a variable number of pentapeptide repeats (CCQ(P/T)S, CCETS), and a specific combination thereof (CCETS CCQPS) shows similarity to the decapeptide repeat (SIQTSCCQPT) described in the sheep KAP1 family (1,7,8).…”

Section: Discovery Of a Domain Of High/ultrahigh Sulfur Kapmentioning

confidence: 99%

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Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

Rogers¹,

Langbein²,

Winter³

et al. 2001

Journal of Biological Chemistry

149

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Low stringency screening of a human P1 artificial chromosome library using a human hair keratin-associated protein (hKAP1.1A) gene probe resulted in the isolation of six P1 artificial chromosome clones. End sequencing and EMBO/GenBank TM data base analysis showed these clones to be contained in four previously sequenced human bacterial artificial chromosome clones present on chromosome 17q12-21 and arrayed into two large contigs of 290 and 225 kilobase pairs (kb) in size. A fifth, partially sequenced human bacterial artificial chromosome clone data base sequence overlapped and closed both of these contigs. One end of this 600-kb cluster harbored six gene loci for previously described human type I hair keratin genes. The other end of this cluster contained the human type I cytokeratin K20 and K12 gene loci. The center of the cluster, starting 35 kb downstream of the hHa3-I hair keratin gene, contained 37 genes for high/ultrahigh sulfur hair keratinassociated proteins (KAPs), which could be divided into a total of 7 KAP multigene families based on amino acid homology comparisons with previously identified sheep, mouse, and rabbit KAPs. To date, 26 human KAP cDNA clones have been isolated through screening of an arrayed human scalp cDNA library by means of specific 3-noncoding region polymerase chain reaction probes derived from the identified KAP gene sequences. This screening also yielded four additional cDNA sequences whose genes were not present on this gene cluster but belonged to specific KAP gene families present on this contig. Hair follicle in situ hybridization data for single members of five different KAP multigene families all showed localization of the respective mRNAs to the upper cortex of the hair shaft.

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Section: Discovery Of a Domain Of High/ultrahigh Sulfur Kapmentioning

confidence: 99%

Section: Discovery Of a Domain Of High/ultrahigh Sulfur Kapmentioning

confidence: 99%

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

Rogers¹,

Langbein²,

Winter³

et al. 2001

Journal of Biological Chemistry

149

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“…KAP7 and KAP8 are each coded by a single gene, whereas KAP6 is encoded by a multigene family (Kuczek and Rogers, 1987). To date, abundant polymorphisms have been detected in sheep KAP6, KAP7, and KAP8 genes, which showed possible associations with variations in fiber diameter, staple strength, and brightness (Powell et al, 1983;Beh et al, 2001Beh et al, , 2002.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of KAP6, KAP7, and KAP8 genes in four Chinese sheep breeds

et al. 2014

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ABSTRACT. High glycine-tyrosine proteins (HGTPs), also known as keratin-associated proteins (KAPs), play a key role in the major structures and mechanical properties of wool fiber. Sheep HGTPs consist of three multigene families: KAP6, KAP7, and KAP8 genes. Polymorphisms of these three genes have been proposed to have important effects on wool fiber traits. The aim of the present study was to identify polymorphisms of the KAP6, KAP7, and KAP8 genes in four sheep breeds, including Chinese Merino superfine wool sheep, Hu sheep, a Merino x Hu crossed breed, and Romney sheep. Polymerase chain reaction (PCR) product direct sequencing, PCR-single-strand conformation polymorphism, and cloned sequencing methods were used to find genetic variation and identify polymorphisms in these genes. The Mutation Surveyor v3.97 software was used to analyze the sequences. These methods revealed six different sequences of the KAP6 gene, two different sequences of the KAP7 gene, and five different sequences of the KAP8 gene. Accordingly, 3439©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 13 (2): 3438-3445 (2014) Polymorphisms of sheep wool keratin-associated protein genes three (with frequencies >1%) single nucleotide polymorphisms (SNPs) of the KAP6 gene, one SNP of the KAP7 gene, and five SNPs of the KAP8 gene were detected. Interestingly, some of these sequences were present in only certain sheep breeds, thereby suggesting that these special allele sequences could be used as candidate genes of wool characteristics in further studies.

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“…These ovine HS-KAP genes are KRTAP1-1 [5], KRTAP1-2 [6], KRTAP1-3 [5], KRTAP1-4 [5], KRTAP3-2 [7], KRTAP3-3 [7] and KRTAP11-1 [8]. Many homologues of the human HS-KAP genes remain unidentified in sheep.…”

Section: Introductionmentioning

confidence: 99%

Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep

Gong¹,

Zhou²,

Dyer³

et al. 2011

OJGen

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Keratin-associated proteins (KAPs) are a major structural component of hair and wool fibres, and play a critical role in determining the properties of the fibre. To date, forty functional high sulphur KAP genes from fourteen families have been identified in humans, but only seven functional high sulphur KAP genes have been identified in sheep. This led us to search for the ovine KAP13-3 gene, a gene encoding a high sulphur KAP. In this study, the notional KAP13-3 gene (KRTAP13-3) was amplified using primers designed based on a reported bovine KRTAP13-3 sequence. PCR-single stranded conformational polymorphism (PCR-SSCP) analysis was used to screen amplicons derived from the gene in one hundred and forty seven New Zealand Romney cross-bred sheep. Five unique banding patterns were revealed. Either one PCR-SSCP pattern (homozygous) or a combination of two patterns (heterozygous) was observed for each sheep. Sequencing of PCR amplicons representtative of different SSCP patterns revealed five different DNA sequences. The sequences derived from the amplicons showed a low homology to other known ovine KRTAPs, but had a high homology with previous reported KRTAP13-n sequences from human and cattle, with the closest homology being with bovine KRTAP13-3, suggesting the sequences represent the ovine KRTAP13-3 locus. Among the five allele sequences, four nucleotide substitutions were identified within the coding region. Of these substitutions, three were non-synonymous and would result in amino acid changes (p.Arg79Cys, p.Arg81Gln and p.Tyr130His). This variation in the KAP13-3 gene may affect gene expression, the structure and assembly of the protein, and consequently influence wool traits, if KAP13-3 is of importance to wool fibre structure.

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Mammalian keratin gene families: organisation of genes coding for the B2 high-sulphur proteins of sheep wool

Cited by 70 publications

References 45 publications

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

Polymorphisms of KAP6, KAP7, and KAP8 genes in four Chinese sheep breeds

Identification of the keratin-associated protein 13-3 (KAP13-3) gene in sheep

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