Growth hormone and receptor gene mutations in Chinese Banna miniature pig
Growth hormone and receptor gene mutations in Chinese Banna miniature pig
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中国版纳小型猪生长激素及受体基因突变
DOI：
10.1080/19768354.2011.616644
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发表时间：
2011-12-01
影响因子：
2.9
通讯作者：
Zhang, Y. L.
中科院分区：
文献类型：
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作者：
Deng, J. Z.;Hao, L. L.;Zhang, Y. L.
版纳小型猪是我国具有代表性的小型猪品种。尽管BNMP侏儒症是明显的，但其潜在的致病突变仍然未知。本研究采用酶联免疫吸附试验（ELISA）检测了BNMP和大白色猪（LWP）血清生长激素（GH）和胰岛素样生长因子（IGF-1）水平，并进行了比较。BNMP组血清IGF-1水平显著低于LWP组（P < 0.05）。这种微小的疾病可能是由GH和GH受体（GHR）基因突变引起的。因此，利用从BNMP的垂体和肝脏组织中获得的总RNA，通过RT-PCR将BNMP的GH和GHR cDNA克隆到pMD 18-T载体中。测序结果表明，BNMP GH基因的开放阅读框由26个氨基酸的信号肽和191个氨基酸的成熟肽组成。BNMP GHR基因的编码序列包含639个氨基酸，包括18个氨基酸长的信号肽。在GH基因的信号肽中发现两个氨基酸替换，A09 V和R22 Q。此外，在BNMP的成熟GH蛋白中发现了S104 P突变。GHR胞浆区的4个突变可能影响GHR下游信号转导，有待进一步实验证实。
The Banna miniature pig (BNMP) is a representative miniature pig breed in China. Even though BNMP dwarfism is obvious, its underlying causative mutations remain unknown. In this study, the BNMP and Large White pig (LWP) serum growth hormone (GH) and insulin-like growth factor (IGF-1) levels were detected by ELISA and compared. BNMP serum IGF-1 levels were significantly lower than LWP levels (P < 0.05). The miniature condition may arise from mutations in the GH and GH receptor (GHR) genes. Therefore, GH and GHR cDNA from the BNMP were cloned into a pMD18-T vector by RT-PCR using the total RNA obtained from the BNMP's pituitary and liver tissues. Sequencing results indicated that the open reading frame of the BNMP GH gene is composed of a 26-residue signal peptide and a 191-residue mature peptide. The coding sequence of the BNMP GHR gene contained 639 amino acids, including a signal peptide that is 18 amino acids long. Two amino acid substitutions, A09V and R22Q, were found in the signal peptide of the GH gene. Additionally, the S104P mutation was found in the BNMP's mature GH protein. Four mutations in the cytoplasmic domain of GHR may influence the downstream signal transduction of GHR, which needs further experimental evidence.