Dey Shatovisha, Parveen Alia, Tarrant Katy J, Licknack Timothy, Kong Byungwhi C, Anthony Nicholas B, Rhoads Douglas D
Program in Cell and Molecular Biology, University of Arkansas, Fayetteville, Arkansas, United States of America.
Department of Biological Sciences, University of Arkansas, Fayetteville, Arkansas, United States of America.
PLoS One. 2018 Jan 2;13(1):e0189544. doi: 10.1371/journal.pone.0189544. eCollection 2018.
Ascites syndrome is the most severe manifestation of pulmonary hypertension in fast-growing broilers. The disease can be attributed to increased body weights of birds, where the higher metabolic load is not matched by sufficient oxygen supply to the cells and tissues. Although there are environmental components, the disease exhibits moderate to high heritability. The current study uses high throughput whole genome resequencing (WGR) to identify genes and chromosomal regions associated with ascites.
The WGR data identified the CPQ gene on chromosome 2. The association was confirmed by genotyping a large collection of DNAs from phenotyped birds from three distinct broiler lines using SNPs in intron 6 and exon 8 of the CPQ gene. By combining the genotype data for these two SNP loci, we identified three different alleles segregating in the three broiler lines. Particular genotypes could be associated with resistance to ascites. We further determined that particular genotypes most associated with resistance overexpress CPQ mRNA in three tissues which might explain the role of these alleles in contributing to resistance.
Our findings indicate CPQ is an important determinant of pulmonary hypertension syndrome leading to ascites in broilers. We identified particular SNPs that can be used for marker-assisted selection of broilers for resistance to the disease. Our findings validate WGR as a highly efficient approach to map determinants contributing to complex phenotypic or disease-related traits. The CPQ gene has been associated with pulmonary hypertension in genome-wide association studies in humans. Therefore, ascites investigations in broilers are likely to provide insights into some forms of hypertension in humans.
腹水综合征是快速生长肉鸡肺动脉高压最严重的表现形式。该病可归因于鸡体重增加，较高的代谢负荷与细胞和组织的充足氧气供应不匹配。尽管存在环境因素，但该病表现出中度至高遗传性。本研究使用高通量全基因组重测序（WGR）来鉴定与腹水相关的基因和染色体区域。
WGR数据在2号染色体上鉴定出CPQ基因。通过使用CPQ基因内含子6和外显子8中的单核苷酸多态性（SNP）对来自三个不同肉鸡品系的表型鸡的大量DNA进行基因分型，证实了这种关联。通过合并这两个SNP位点的基因型数据，我们在三个肉鸡品系中鉴定出三个不同的等位基因。特定的基因型可能与抗腹水能力相关。我们进一步确定，与抗性最相关的特定基因型在三个组织中过表达CPQ mRNA，这可能解释了这些等位基因在抗性中的作用。
我们的研究结果表明CPQ是导致肉鸡腹水的肺动脉高压综合征的重要决定因素。我们鉴定出了可用于标记辅助选择抗该病肉鸡的特定SNP。我们的研究结果验证了WGR作为一种高效方法来定位导致复杂表型或疾病相关性状的决定因素。在人类全基因组关联研究中，CPQ基因已与肺动脉高压相关。因此，对肉鸡腹水的研究可能会为人类某些形式的高血压提供见解。
