Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) has been observed in several species, including the mouse and humans. In this study, TRD was characterized in the turkey genome using both allelic (specific‐ and unspecific‐parent TRD) and genotypic (additive‐ and dominance‐TRD) parameterizations within a Bayesian framework. In this study, we evaluated TRD for 23 243 genotyped Turkeys across 56 393 autosomal SNPs. The analyses included 500 sires, 2013 dams and 11 047 offspring (trios). Three different haplotype sliding windows of 4, 10 and 20 SNPs were used across the autosomal chromosomes. Based on the genotypic parameterizations, 14 haplotypes showed additive and dominance TRD effects highlighting regions with a recessive TRD pattern. In contrast, the allelic model uncovered 12 haplotype alleles with the allelic TRD pattern which showed an underrepresentation of heterozygous offspring in addition to the absence of homozygous animals. For regions with the allelic pattern, only one particular region showed a parent‐specific TRD where the penetrance was high via the dam, but low via the sire. The gene set analysis uncovered several gene ontology functional terms, Reactome pathways and several Medical Subject Headings that showed significant enrichment of genes associated with TRD. Many of these gene ontology functional terms (e.g. mitotic spindle assembly checkpoint, DRM complex and Aneuploidy), Reactome pathways (e.g. Mismatch repair) and Medical Subject Headings (e.g. Adenosine monophosphate) are known to be related to fertility, embryo development and lethality. The results of this study revealed potential novel candidate lethal haplotypes, functional terms and pathways that may enhance breeding programs in Turkeys through reducing mortality and improving reproduction rate.

中文翻译：

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使用传输比失真方法发现火鸡基因组中的致命等位基因

在包括小鼠和人类在内的多个物种中都观察到了与孟德尔遗传预期的偏差（传输比失真，TRD）。在这项研究中，在贝叶斯框架内使用等位基因（特异性和非特异性亲本 TRD）和基因型（加性和显性 TRD）参数化来表征火鸡基因组中的 TRD。在这项研究中，我们评估了 23 243 只基因型火鸡的 56 393 个常染色体 SNP 的 TRD。分析包括 500 头公牛、2013 头母牛和 11 047 头后代（三组）。在常染色体上使用了 4、10 和 20 个 SNP 的三种不同单倍型滑动窗口。基于基因型参数化，14 个单倍型显示出加性和显性 TRD 效应，突出显示具有隐性 TRD 模式的区域。相比之下，等位基因模型发现了 12 个具有等位基因 TRD 模式的单倍型等位基因，除了不存在纯合动物外，杂合子后代的代表性不足。对于具有等位基因模式的区域，只有一个特定区域显示出亲本特异性 TRD，其中母系的外显率较高，而父系的外显率较低。基因集分析发现了几个基因本体功能术语、反应组途径和几个医学主题词，显示与 TRD 相关的基因显着富集。许多这些基因本体功能术语（例如有丝分裂纺锤体组装检查点、DRM 复合体和非整倍体）、反应组途径（例如错配修复）和医学主题词（例如单磷酸腺苷）已知与生育力、胚胎发育和致死性相关。这项研究的结果揭示了潜在的新候选致死单倍型、功能术语和途径，可以通过降低死亡率和提高繁殖率来加强火鸡的育种计划。