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1.
羊毛的主要成分是角蛋白,其组分高甘氨酸-酪氨酸蛋白(HGTP)家族成员KAP6、KAP7和KAP8基因表达对羊毛细度和弯曲等特性具有重要影响。本文从羊毛的组成、角蛋白的生物学特征以及HGTP基因定位和表达对细度的影响等方面进行了综述,旨在为羊毛发育调控研究提供理论参考。  相似文献   

2.
KAP9.2基因是角蛋白关联蛋白(keratin associated protein, KAP)中的一员,在毛发的形成过程中有重要的调控作用。本研究对西藏绒山KAP9.2基因CDS进行了克隆;采用直接测序法对绒山羊200个个体KAP9.2基因外显子区的遗传变异情况进行分析;并利用Real-time PCR分析了KAP9.2基因在不同海拔山羊中的表达。结果显示,西藏绒山羊KAP9.2基因CDS序列为576 bp,编码191个氨基酸;KAP9.2基因外显子存在25处SNP位点及一处30 bp的缺失突变,其中12处SNP为错义突变,其他13处为同义突变。遗传多态性分析表明KAP9.2基因多态性丰富,遗传变异大;连锁分析发现12与388位点、54与93位点、153与159位点、273与279位点完全连锁,H1为优势单倍型;Real-time PCR显示西藏绒山羊KAP9.2基因在高海拔地区m RNA表达水平显著高于特高海拔地区,推测该基因可能促进绒毛的生长。本研究结果揭示了西藏绒山羊KAP9.2基因的遗传多态性及其在不同海拔的表达,为进一步研究KAP9.2基因潜在的功能位点提供一定的理论依据。  相似文献   

3.
杨彦杰  昝林森  王洪宝 《遗传》2009,31(10):1006-1012
利用PCR-SSCP结合测序技术对405头24月龄秦川牛脂联素基因SNPs位点进行检测, 运用SPSS统计程序中的GLM模型将检测到的SNPs位点与部分胴体及肉质性状的相关性进行了分析。结果检测到AA、AB、BB、CC、CD 5种基因型, 其中AB、BB型个体在脂联素基因第2外显子 64 bp处发现G→C突变, CD型个体第3外显子50 bp处发现C→T的突变, G→C导致谷氨酸(GGA)转化为谷氨酰胺(GCA), C→T导致丝氨酸(TCA)转化为亮氨酸(TTA)。方差分析结果表明: AA型个体的宰前活重、胴体重、眼肌面积显著高于BB型(P<0.05), 而在胴体腿臀围方面, AA型个体极显著高于AB型、BB型个体(P<0.01)。CD型个体的宰前活重、胴体腿臀围、皮下脂肪厚、背膘厚、嫩度都显著优于CC型个体(P<0.05)。脂联素基因该位点可能是影响秦川牛胴体及肉质性状的主效QTL或与之紧密连锁, 可作为秦川牛高档牛肉生产的候选分子标记。  相似文献   

4.
本试验旨在研究贵州白山羊GFI1B基因第八外显子的多态性,及其与生长性状的相关性.通过PCR-RFLP技术对贵州白山羊外显子SNPs位点进行检测,利用一般线形模型分析其与生长性状的关联性.结果显示,供试群体中在外显子上检测到2个SNPs位点,即第八外显子263(G/T)和340(G/A).最小二乘法分析表明,G340A位点,CC型和DD型的体重、体长、胸深和胸宽对CD型达到差异及显著水平(p约0.01).本研究检测到的GFI1B基因第八外显子340(G/A)多态性位点可作为贵州白山羊生长性状的候选分子标记.  相似文献   

5.
根据表型性状选取少量辽宁绒山羊个体,直接进行类胰岛素生长因子-Ⅰ(IGF-Ⅰ) 基因5′调控区克隆测序以确定单核苷酸多态(SNP)位点,共发现4个SNPs,分别是G→C (388 bp)、A→G (668 bp)、A→C (719 bp)、G→A (752 bp)的突变,导致5′调控区305~800 bp中比野生型个体减少一个CdxA转录因子结合位点,但C/EBP的值 (89.2)高于野生型 (88.5).然后通过引入错配碱基创造酶切位点技术和多聚酶链反应-限制性片段长度多态性 (PCR-RFLP)方法,对520只辽宁绒山羊进行基因型检测,结果表明,每个SNP位点在本群体中都有AA (野生型)、AB和BB (突变型) 三种基因型,且4个SNPs位点共有13种单倍型组合.将不同SNP的基因型及单倍型组合与绒产量、绒纤维细度和绒纤维长度进行关联分析发现,SNP2位点的AA基因型绒纤维细度极显著低于AB型和BB型 (P < 0.01),而SNP4位点AA基因型产绒量显著高于AB型和BB型 (P < 0.05),单倍型组合H7H7与产绒量和绒纤维细度均有显著相关(P < 0.05).IGF-Ⅰ基因可能是影响绒山羊产绒性状的主要候选基因.  相似文献   

6.
为探讨Smad1/5基因在贝类生长发育中的调控作用, 利用RACE技术克隆获得文蛤Smad1/5(Mm-Smad1/5)基因的cDNA全长序列, 对其生物信息学、不同组织和不同发育时期时空表达特征进行分析, 并利用直接测序法分析了外显子区域SNP位点与生长性状的相关性。结果表明: Mm-Smad1/5的cDNA全长序列为1832 bp, 开放阅读框1380 bp, 编码459个氨基酸; 氨基酸多序列比对显示, Mm-Smad1/5蛋白与太平洋牡蛎Smad5、大西洋舟螺Smad1的一致性分别为83.7%和80.2%, 与人、鸡、非洲爪蟾等脊椎动物Smad1、Smad5氨基酸序列的一致性达到70.5%以上, 说明该基因具有较高的保守性; 结构域预测发现, Mm-Smad1/5含有Smads蛋白家族特有MH1、MH2两个高度保守结构域。荧光定量PCR(qRT-PCR)结果表明, Mm-Smad1/5基因在成体6个组织均有表达, 尤其在斧足、外套膜中表达量显著高于其他组织(P<0.05);Mm-Smad1/5基因在各发育时期广泛表达, 从原肠胚期开始大量表达, 一直持续到壳顶幼虫期, 而从眼点幼虫大量下降, 稚贝时期又有所上升。Mm-Smad1/5基因外显子区域SNP位点相关分析表明, 共发现了9个SNP位点, 其中936 G>T位点与文蛤的生长性状显著相关(P<0.05)。Mm-Smad1/5基因在文蛤生长发育中发挥重要调控作用, 可作为高产良种选育的候选基因, 而生长关联SNP位点分析将为文蛤分子标记辅助育种研究奠定重要基础。  相似文献   

7.
三个山羊品种KAP8基因的PCR-SSCP分析   总被引:3,自引:2,他引:1  
目的:为了筛选绒山羊产绒性状的候选基因。方法:采用PCR-SSCP法对三个山羊品种角蛋白辅助蛋白8(KAP8)进行了多态性研究。结果:三个品种中KAP8.1均未出现多态,而KAP8.2均出现了三种带型:AA、BB和AB。Hardy-Weinberg分析表明辽宁绒山羊和黎城大青羊未达到平衡状态,辽-苛高代杂种山羊达到了平衡。测序结果显示,和Genebank登陆序列相比,AA和BB均发生了碱基变化。其中AA型出现了以下变异:216bp(G-A),217(A-G),BB型出现了以下变异:216bp(G-A),232bp(C-T)。分析表明AA型变异造成了氨基酸序列发生了变化(R-K),而BB型突变未造成氨基酸发生改变。结论:KAP8.2可能是影响绒山羊产绒性状的基因之一。  相似文献   

8.
运用 PCR-SSCP 技术研究100尾牙鲆(Paralichthys olivaceus)MyoD 基因的单核苷酸多态性(Single nucleotide polymorphisms, SNPs),并将筛选到的突变位点与牙鲆生长性状进行相关性分析。结果表明,在外显子1和内含子1上存在3个SNPs,在外显子1(MyoD2)基因座发现3种基因型AA、AB和BB, G863A突变,属于同义突变。在内含子 MyoD4基因座检测到 DD、FF、CD、CE、DE 和 DF 型个体。利用最小二乘法研究MyoD基因多态性位点对牙鲆生长性状的影响。结果表明,外显子1的SNPs对生长性状无显著影响(P>0.05)。内含子1的SNPs对牙鲆的生长性状影响均显著(P<0.05)。研究结果为SNPs位点与牙鲆生长性能关联分析奠定了基础。  相似文献   

9.
李春笑  蒋美山  陈仕毅  赖松家 《遗传》2008,30(7):893-899
通过PCR产物直接测序的方法, 对荥经长毛兔、天府黑兔以及加利福尼亚兔的FGF5基因外显子1和外显子3进行单核苷酸多态性分析。在外显子1的217位(位点A)检测到由TCT三碱基插入引起的移码突变, 在外显子3的59位(位点B)和3位(位点C)分别发生了错义突变由T→C和同义突变由T→C。通过计算发现各位点不同的基因型和等位基因频率在3个兔品种中存在较大的差异, 位点A、B在长毛兔和肉兔中均有各自的优势基因型和等位基因。各位点基因型与产毛量的最小二乘分析表明, 位点A各基因型的个体在产毛量上差异不显著(P>0.05), 位点B各基因型个体产毛量的差异极显著(P<0.01), 位点C各基因型个体产毛量的差异显著(P<0.05)。初步推断FGF5基因可能是影响长毛兔产毛量潜在的主效基因或者与主效基因连锁, 可作为长毛兔产毛性状连锁分析的候选遗传标记。  相似文献   

10.
为研究中华绒螯蟹(Eriocheir sinensis)肌肉生长抑制素基因(myostatin, MSTN)的多态性及其与生长性状的相关性, 对中华绒螯蟹3个群体(育种群体、大赛群体、野生群体)共321个个体MSTN基因的多态性进行筛选, 发现该基因的第1外显子存在3个多态性SNP位点(S1: C714T; S2:G729A; S3:G753T), 均为处于Hardy-Weinberg平衡(P>0.05)的中、高度多态性位点。利用一般线性模型分析3个位点及其基因型组合与生长性状的相关性, 发现S1位点对中华绒螯蟹的体重和壳长等生长性状有显著影响(P≤0.05), 而其余2个位点与生长性状无显著关联性。结果表明S1位点的TT基因型对中华绒螯蟹的生长最为有利, 可作为分子标记辅助育种的候选标记。  相似文献   

11.
12.
Wool is composed primarily of proteins belonging to the keratin family. These include the keratins and keratin‐associated proteins (KAPs) that are responsible for the structural and mechanical properties of wool fibre. Although all human keratin and KAP genes have been annotated, many of their ovine counterparts remain unknown and even less is known about their genomic organisation. The aim of this study was to use a combinatory approach including comprehensive cDNA and de novo genomic sequencing to identify ovine keratin and KAP genes and their genomic organisation and to validate the keratins and KAPs involved in wool production using ovine expressed sequence tag (EST) libraries and proteomics. The number of genes and their genomic organisation are generally conserved between sheep, cattle and human, despite some unique features in the sheep. Validation by protein mass spectrometry identified multiple keratins (types I and II), epithelial keratins and KAPs. However, 15 EST‐derived genes, including one type II keratin and 14 KAPs, were identified in the sheep genome that were not present in the NCBI gene set, providing a significant increase in the number of keratin genes mapped on the sheep genome.  相似文献   

13.
An updated nomenclature for keratin-associated proteins (KAPs)   总被引:1,自引:0,他引:1  
Most protein in hair and wool is of two broad types: keratin intermediate filament-forming proteins (commonly known as keratins) and keratin-associated proteins (KAPs). Keratin nomenclature was reviewed in 2006, but the KAP nomenclature has not been revised since 1993. Recently there has been an increase in the number of KAP genes (KRTAPs) identified in humans and other species, and increasingly reports of variation in these genes. We therefore propose that an updated naming system is needed to accommodate the complexity of the KAPs. It is proposed that the system is founded in the previous nomenclature, but with the abbreviation sp-KAPm-nL*x for KAP proteins and sp-KRTAPm-n(p/L)*x for KAP genes. In this system "sp" is a unique letter-based code for different species as described by the protein knowledge-based UniProt. "m" is a number identifying the gene or protein family, "n" is a constituent member of that family, "p" signifies a pseudogene if present, "L" if present signifies "like" and refers to a temporary "place-holder" until the family is confirmed and "x" signifies a genetic variant or allele. We support the use of non-italicised text for the proteins and italicised text for the genes. This nomenclature is not that different to the existing system, but it includes species information and also describes genetic variation if identified, and hence is more informative. For example, GenBank sequence JN091630 would historically have been named KRTAP7-1 for the gene and KAP7-1 for the protein, but with the proposed nomenclature would be SHEEP-KRTAP7-1*A and SHEEP-KAP7-1*A for the gene and protein respectively. This nomenclature will facilitate more efficient storage and retrieval of data and define a common language for the KAP proteins and genes from all mammalian species.  相似文献   

14.
Wool is an important agricultural commodity with merino wool being rated alongside the finest quality fibres, which include the goat fibres Mohair and Cashmere. Although pigmented wool merinos have become extremely rare, the market for this wool is increasing. In Portugal, there are two merino breeds: white and black, descendants of animals originally bred on the Iberian Peninsula. These breeds have the potential to assist in our understanding of how protein expression relates to wool traits of importance to the textile industry. Herein, we study the characteristics and protein expression profiles of wool from ewes of the Portuguese black and white merino (n=15). Both breeds had very similar results for fibre diameter (25 µm) and curvature (105 to 111°/mm). Significant between-breed differences were found in the two types of keratin-associated proteins (KAPs): high-sulphur proteins (HSPs) and high-glycine–tyrosine proteins (HGTPs). The expression of HSPs, KAP2-3 and KAP2-4, decreased expression in the pigmented animals, whereas KAP13-1 was found in higher amounts. Likewise, the expression of the ultra-high-sulphur proteins, KAP4-3 and KAP4-7-like, was reduced in black sheep to half the levels of the white wools, whereas the HGTPs, KAP6, KAP6-1, KAP6-2 and KAP16-2, were more abundant in black sheep. These results suggest structural differences between the black and white merino wool, because of differences among some KAPs. These differences have important implications for the textile industry.  相似文献   

15.
16.
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 keratin-associated 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.  相似文献   

17.
Keratin-associated proteins (KAPs) are a structural component of the wool fibre and form the matrix between the keratin intermediate filaments (KIFs). The gene encoding high sulphur-protein KAP11-1 has been identified in human, cattle and mouse, but not yet in sheep, despite the economic importance of wool. In this study, PCR using primers based on the cattle KAP11-1 gene sequence produced an amplicon of the expected size with sheep DNA. Upon using PCR–Single Stranded Conformational Polymorphism (PCR–SSCP) analysis in 260 sheep, six different PCR–SSCP patterns were detected. Either one or a combination of two banding patterns was observed for each sheep, suggesting they were either homozygous or heterozygous for this gene. Sequencing of the amplicons confirmed the occurrence of six DNA sequences. All of these were unique, and the greatest homology was with KRTAP11-1 sequences from cattle, human and mouse, suggesting that they were derived from the ovine KAP11-1 gene and were allelic variants. The ovine KAP11-1 gene had an open reading frame of 477 nucleotides encoding 159 amino acids. The putative protein was rich in serine, cysteine, and threonine which account for 18.2–18.9, 12.6 and 12.0 mol%, respectively. Of these, approximately 20 of the serine and threonine residues might be phosphorylated. Five nucleotide substitutions were identified, and one was non-synonymous and would result in an amino acid change at a potential phosphorylation site. The genetic variation found in KRTAP11-1 may influence its expression, protein structure, and/or post-translational modifications, and consequently affect wool fibre structure and wool traits.  相似文献   

18.
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.  相似文献   

19.
We report the isolation and complete nucleotide sequence of genes encoding the two major high-(glycine + tyrosine) (HGT) keratins of sheep wool in separate genomic clones. The genes have negligible sequence homology except for an 18-bp conserved element immediately preceding the initiation codon. The same element has been found in the corresponding position of a number of co-expressed high-sulphur (HS) keratin genes and may therefore represent a common element between these wool intermediate-filament-associated proteins. As seen for the HS keratin genes, the HGT keratin genes also lack introns. Southern blot data show that both HGT genes are unique in the sheep genome, indicating that the observed heterogeneity of the HGT protein class may not be as complex as previously suggested.  相似文献   

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