Nanchang University, China.
J Genet Genomics. 2009 Dec;36(12):703-9. doi: 10.1016/S1673-8527(08)60163-0.
Transmission distortion (TD) is a significant departure from Mendelian predictions of genes or chromosomes to offspring. While many biological processes have been implicated, there is still much to be understood about TD in humans. Here we present our findings from a genome-wide scan for evidence of TD using haplotype data of 60 trio families from the International HapMap Project. Fisher's exact test was applied to assess the extent of TD in 629,958 SNPs across the autosomes. Based on the empirical distribution of P(Fisher) and further permutation tests, we identified 1,205 outlier loci and 224 candidate genes with TD. Using the PANTHER gene ontology database, we found 19 categories of biological processes with an enrichment of candidate genes. In particular, the "protein phosphorylation" category contained the largest number of candidates in both HapMap samples. Further analysis uncovered an intriguing non-synonymous change in PPP1R12B, a gene related to protein phosphorylation, which appears to influence the allele transmission from male parents in the YRI (Yoruba from Ibadan, Nigeria) population. Our findings also indicate an ethnicity-related property of TD signatures in HapMap samples and provide new clues for our understanding of TD in humans.
传递扭曲（TD）是指基因或染色体向后代传递的方式与孟德尔预测有显著差异。尽管许多生物学过程已被涉及，但人类对 TD 的了解仍有很多。在这里，我们通过国际人类基因组单体型图计划的 60 个三核苷酸家庭的单体型数据，对全基因组范围内存在 TD 的证据进行了扫描。我们应用 Fisher 精确检验评估了 629958 个 SNP 上 TD 的程度。基于 P（Fisher）的经验分布和进一步的置换检验，我们鉴定出 1205 个异常基因座和 224 个具有 TD 的候选基因。使用 PANTHER 基因本体数据库，我们发现了 19 个具有候选基因富集的生物学过程类别。特别是，“蛋白质磷酸化”类别包含了两个 HapMap 样本中最多的候选基因。进一步的分析揭示了 PPP1R12B 中的一个有趣的非同义变化，该基因与蛋白质磷酸化有关，似乎影响了 YRI（来自尼日利亚伊巴丹的约鲁巴人）人群中男性父母的等位基因传递。我们的研究结果还表明，HapMap 样本中的 TD 特征具有与种族相关的特性，并为我们理解人类中的 TD 提供了新的线索。
