Gene-Marker Laboratory, Faculty of Agriculture and Life Sciences, Lincoln University, Lincoln, New Zealand.
Electrophoresis. 2010 Oct;31(21):3545-7. doi: 10.1002/elps.201000301.
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.
角蛋白相关蛋白（KAPs）是羊毛纤维的主要结构成分之一。KAP 基因（KRTAPs）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 KAP5 家族成员的绵羊 KRTAP5-4 基因。在分析的 250 只绵羊中，检测到了 5 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，这与这些绵羊在该基因座上是纯合子或杂合子的情况一致。DNA 测序表明，这些模式代表了 5 种不同的 DNA 序列。其中一个序列与已发表的绵羊 KRTAP5-4 序列完全相同。其余 4 个序列是独特的，但与已发表的绵羊 KRTAP5-4 序列具有高度同源性，表明这些序列代表 KRTAP5-4 的等位基因变异体。这些序列中共有 6 个 SNP 和 1 个长度多态性。在编码区发现的 5 个 SNP 中，有 4 个是非同义 SNP，会导致氨基酸变化。长度多态性会影响假定肽的半胱氨酸含量，而这些 SNP 可能会影响 KAP5-4 的结构，从而影响羊毛特性。
