Song Cheng-Yi, Gao Bo, Teng Shang-Hui, Wang Xiao-Yang, Xie Fei, Chen Guo-Hong, Wang Zhi-Yue, Jing Rong-Bin, Mao Jiu-De
College of Animal Science & Technology, Yangzhou University, 12 Wenhui East Road, Yangzhou, Jiangsu Province, P.R. China.
J Appl Genet. 2007;48(4):371-4. doi: 10.1007/BF03195234.
This study was conducted to detect polymorphisms in intron 1 of porcine POU1F1 (POU domain, class 1, transcription factor 1, Pit1, renamed as POU1F1) by comparative sequencing. Within the intron, 23 sites of variation were identified, including 16 single-nucleotide substitutions, 4 single-nucleotide indels, 2 short (3-bp and 17-bp), and one long (313-bp) indels. Several important regulatory motifs were found within the 313-bp indel by in silico analysis. The 313-bp indel was next genotyped in 11 Chinese native pig breeds and 4 western meat-type pig breeds. The appearance of genotypes varied between breeds: among Chinese native breeds, no AA and AB genotypes were found in Tibetan, Lingao, Min, Rongchang, and Songliao Black pigs, no AA genotype was found in Fenjing and Leping Spotted pigs, whereas in Pietrain and Landrace there were no BB genotypes, and all 19 Duroc pigs were AA homozygotes. The western meat-type pigs had high A allele frequencies and the Chinese pigs had more B alleles, except Jianquhai pigs. A positive association of the AA genotype with birth weight was observed in a commercial pig line. This paper demonstrated that the genetic variation in intron 1 of the pig POU1F1 gene was high and these polymorphisms may provide useful makers for QTL analysis.
本研究旨在通过比较测序检测猪POU1F1基因（POU结构域，第1类，转录因子1，Pit1，现重命名为POU1F1）内含子1中的多态性。在内含子中，共鉴定出23个变异位点，包括16个单核苷酸替换、4个单核苷酸插入缺失、2个短插入缺失（3bp和17bp）以及1个长插入缺失（313bp）。通过电子分析在313bp插入缺失中发现了几个重要的调控基序。随后对11个中国地方猪种和4个西方瘦肉型猪种的313bp插入缺失进行了基因分型。各猪种间基因型的出现情况有所不同：在中国地方猪种中，藏猪、临高猪、闽猪、荣昌猪和松辽黑猪中未发现AA和AB基因型，枫泾猪和乐平花猪中未发现AA基因型，而皮特兰猪和长白猪中未发现BB基因型，所有19头杜洛克猪均为AA纯合子。除剑曲海猪外，西方瘦肉型猪的A等位基因频率较高，而中国猪的B等位基因较多。在一个商业猪系中观察到AA基因型与出生体重呈正相关。本文表明，猪POU1F1基因内含子1的遗传变异较高，这些多态性可能为QTL分析提供有用的标记。
