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Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs

التفاصيل البيبلوغرافية
العنوان: Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs
المؤلفون: Fuchen Zhou, Shenghui Wang, Haojun Qin, Haiyu Zeng, Jian Ye, Jie Yang, Gengyuan Cai, Zhenfang Wu, Zebin Zhang
المصدر: BMC Genomics, Vol 24, Iss 1, Pp 1-12 (2023)
بيانات النشر: BMC, 2023.
سنة النشر: 2023
المجموعة: LCC:Biotechnology
LCC:Genetics
مصطلحات موضوعية: Aplasia cutis congenita, Congenital disorder, Genome-wide association study, Pig, Candidate gene, Biotechnology, TP248.13-248.65, Genetics, QH426-470
الوصف: Abstract Background Aplasia cutis congenita (ACC) is a rare genetic disorder characterized by the localized or widespread absence of skin in humans and animals. Individuals with ACC may experience developmental abnormalities in the skeletal and muscular systems, as well as potential complications. Localized and isolated cases of ACC can be treated through surgical and medical interventions, while extensive cases of ACC may result in neonatal mortality. The presence of ACC in pigs has implications for animal welfare. It contributes to an elevated mortality rate among piglets at birth, leading to substantial economic losses in the pig farming industry. In order to elucidate candidate genetic loci associated with ACC, we performed a Genome-Wide Association Study analysis on 216 Duroc pigs. The primary goal of this study was to identify candidate genes that associated with ACC. Results This study identified nine significant SNPs associated with ACC. Further analysis revealed the presence of two quantitative trait loci, 483 kb (5:18,196,971–18,680,098) on SSC 5 and 159 kb (13:20,713,440–207294431 bp) on SSC13. By annotating candidate genes within a 1 Mb region surrounding the significant SNPs, a total of 11 candidate genes were identified on SSC5 and SSC13, including KRT71, KRT1, KRT4, ITGB7, CSAD, RARG, SP7, PFKL, TRPM2, SUMO3, and TSPEAR. Conclusions The results of this study further elucidate the potential mechanisms underlying and genetic architecture of ACC and identify reliable candidate genes. These results lay the foundation for treating and understanding ACC in humans.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1471-2164
Relation: https://doaj.org/toc/1471-2164
DOI: 10.1186/s12864-023-09803-6
URL الوصول: https://doaj.org/article/eeb1991f7e48475ba3c5515e8e5002e6
رقم الأكسشن: edsdoj.b1991f7e48475ba3c5515e8e5002e6
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:14712164
DOI:10.1186/s12864-023-09803-6