Porcine skeletal muscle differentially expressed gene CMYA1: isolation, characterization, mapping, expression and association analysis with carcass traits.
Porcine skeletal muscle differentially expressed gene CMYA1: isolation, characterization, mapping, expression and association analysis with carcass traits.
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DOI：
10.1111/j.1365-2052.2008.01825.x
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发表时间：
2009-06
期刊：
影响因子：
2.4
通讯作者：
X. L. Xu;X. W. Xu;P. Pan;K. Li;Z. Jiang;M. Yu;M. Rothschild;B. Liu
中科院分区：
文献类型：
--
作者：
X. L. Xu;X. W. Xu;P. Pan;K. Li;Z. Jiang;M. Yu;M. Rothschild;B. Liu
为了研究一些肥胖和瘦肉型猪品种间基因表达的差异，我们在先前的研究中采用了差异显示的方法。其中一个差异表达的EST(BI596262)被进一步鉴定为猪心肌病相关基因(CMYA1)，因为它与人的CMYA1基因同源。猪CMYA1基因全长9379bp，包括编码1839个氨基酸残基的完整开放阅读框、158个碱基的5‘非编码区和630个碱基的3’非编码区。利用辐射杂交板(IMpRH)将猪CMYA1基因定位于13号染色体。猪CMYA1基因仅在横纹肌中表达。编码区的单核苷酸多态(SNP)扫描发现一个同义突变(c.1053C>；T)和三个错义突变：c.1394A>；G(p.His465Arg)、c.1751A>；G(p.Asp582Gly)和c.3290C>；A(p.Thr1097Asp)。对来自几个猪种的约200头无关猪的等位基因频率进行了检测。进一步与伯克夏×约克夏资源家系中的SNP c.1751a>；G(p.Asp582Gly)进行连锁定位，证实了猪CMYA1与Sw344紧密连锁(距离=2 cM，LOD值为129.47)，这是一个有趣的背脂厚度QTL区域。对本试验猪群体的关联分析表明，CMYA1基因不同的基因型与不同的背脂厚度相关(P<；0.05)。我们的结果表明，猪CMYA1基因对猪背部脂肪沉积有影响，其潜在机制还有待进一步研究。
To investigate the differences in gene expression between some obese and lean pig breeds, differential display of mRNA was employed in our previous research. One differentially expressed EST (BI596262) was further identified as the porcine cardiomyopathy associated 1 (CMYA1) gene because of its homology to the human CMYA1 gene. The full-length DNA of the porcine CMYA1 gene encompasses 9379 bp, including a complete open reading frame encoding 1839 amino acid residues, a 158-bp 5'-untranslated region and a 630-bp 3'-untranslated region. The porcine CMYA1 gene was assigned to chromosome 13 by the radiation hybrid panel (IMpRH). The porcine CMYA1 gene was expressed only in the striated muscle. Single nucleotide polymorphism (SNP) scanning in the coding region identified one synonymous mutation (c.1053C>T) and three missense mutations, c.1394A>G (p.His465Arg), c.1751A>G (p.Asp582Gly) and c.3290C>A (p.Thr1097Asp). The allele frequencies were tested among about 200 unrelated pigs from several pig breeds. Linkage mapping was further conducted with the SNP c.1751A>G (p.Asp582Gly) in a Berkshire x Yorkshire resource family and this confirmed that porcine CMYA1 is closely linked with Sw344 (distance = 2 cM, LOD score is 129.47), an interesting region harbouring a QTL for back fat thickness. Association analysis in our experimental pig population showed that different genotypes of CMYA1 gene were associated with different back fat thicknesses (P < 0.05). Our results suggest that the porcine CMYA1 gene has effects on porcine back fat deposition and further investigation will be necessary to illustrate the underlying mechanisms.