Balmer Pierre, Bauer Anina, Pujar Shashikant, McGarvey Kelly M, Welle Monika, Galichet Arnaud, Müller Eliane J, Pruitt Kim D, Leeb Tosso, Jagannathan Vidhya
Division of Clinical Dermatology, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Dermfocus, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
PLoS One. 2017 Aug 28;12(8):e0180359. doi: 10.1371/journal.pone.0180359. eCollection 2017.
Keratins represent a large protein family with essential structural and functional roles in epithelial cells of skin, hair follicles, and other organs. During evolution the genes encoding keratins have undergone multiple rounds of duplication and humans have two clusters with a total of 55 functional keratin genes in their genomes. Due to the high similarity between different keratin paralogs and species-specific differences in gene content, the currently available keratin gene annotation in species with draft genome assemblies such as dog and horse is still imperfect. We compared the National Center for Biotechnology Information (NCBI) (dog annotation release 103, horse annotation release 101) and Ensembl (release 87) gene predictions for the canine and equine keratin gene clusters to RNA-seq data that were generated from adult skin of five dogs and two horses and from adult hair follicle tissue of one dog. Taking into consideration the knowledge on the conserved exon/intron structure of keratin genes, we annotated 61 putatively functional keratin genes in both the dog and horse, respectively. Subsequently, curators in the RefSeq group at NCBI reviewed their annotation of keratin genes in the dog and horse genomes (Annotation Release 104 and Annotation Release 102, respectively) and updated annotation and gene nomenclature of several keratin genes. The updates are now available in the NCBI Gene database (https://www.ncbi.nlm.nih.gov/gene).
角蛋白是一个庞大的蛋白质家族,在皮肤、毛囊及其他器官的上皮细胞中发挥着重要的结构和功能作用。在进化过程中,编码角蛋白的基因经历了多轮复制,人类基因组中有两个基因簇,共有55个功能性角蛋白基因。由于不同角蛋白旁系同源物之间的高度相似性以及基因含量的物种特异性差异,目前在犬、马等具有基因组草图组装的物种中,可用的角蛋白基因注释仍然不完美。我们将美国国立生物技术信息中心(NCBI)(犬注释版本103、马注释版本101)和Ensembl(版本87)对犬和马角蛋白基因簇的基因预测与从5只犬和2匹马的成年皮肤以及1只犬的成年毛囊组织中生成的RNA测序数据进行了比较。考虑到角蛋白基因保守的外显子/内含子结构知识,我们分别在犬和马中注释了61个推定的功能性角蛋白基因。随后,NCBI的RefSeq团队的管理员审查了他们对犬和马基因组中角蛋白基因的注释(分别为注释版本104和注释版本102),并更新了几个角蛋白基因的注释和基因命名法。这些更新现在可在NCBI基因数据库(https://www.ncbi.nlm.nih.gov/gene)中获取。