Department of Agricultural Sciences, Faculty of Agricultural and Life Sciences, Lincoln University, 7647, Christchurch, New Zealand.
Mol Biol Rep. 2010 Oct;37(7):3377-80. doi: 10.1007/s11033-009-9925-4. Epub 2009 Dec 1.
Keratin-associated proteins (KAPs) are one of the main structural components of the wool fibre and form a semi-rigid matrix in which the keratin intermediate filaments are embedded. Variation in the KAP genes may affect the structure of KAPs and hence wool characteristics. In this study, we used PCR-SSCP to analyse ovine KRTAP1-4 (previously B2D), a gene encoding a member of the KAP1-x family. Nine different PCR-SSCP patterns were detected in the 320 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 for this gene. DNA sequencing revealed that these patterns represent nine different DNA sequences. All of these sequences were unique, but shared a high homology with the published ovine KRTAP1-4 sequence, suggesting that these sequences represent allelic variants of KRTAP1-4. There were a total of 14 single nucleotide polymorphisms (SNPs) identified and these SNPs tended to be clustered in two regions. Of the 13 SNPs found in the coding region, nine were non-synonymous SNPs and would result in amino acid changes. The variation detected here may have an impact on the structure of KAP1-4 and hence affect wool traits.
角蛋白相关蛋白（KAPs）是羊毛纤维的主要结构成分之一，形成半刚性基质，其中嵌入角蛋白中间丝。KAP 基因的变异可能会影响 KAPs 的结构，从而影响羊毛特性。在本研究中，我们使用 PCR-SSCP 分析了编码 KAP1-x 家族成员的绵羊 KRTAP1-4（以前称为 B2D）基因。在分析的 320 只绵羊中检测到 9 种不同的 PCR-SSCP 模式。每只绵羊观察到一种或两种模式的组合，这与这些绵羊对此基因的纯合子或杂合子一致。DNA 测序表明，这些模式代表 9 种不同的 DNA 序列。所有这些序列都是独特的，但与已发表的绵羊 KRTAP1-4 序列具有高度同源性，表明这些序列代表 KRTAP1-4 的等位基因变异体。总共鉴定出 14 个单核苷酸多态性（SNP），这些 SNP 倾向于聚集在两个区域。在编码区发现的 13 个 SNP 中，有 9 个是非同义 SNP，会导致氨基酸变化。这里检测到的变异可能会影响 KAP1-4 的结构，从而影响羊毛特性。
