Natural adaptation and human selection of northeast African sheep genomes

Genetics of the phenotypic evolution in sheep: a molecular look at diversity-driving genes

“…The study also emphasized the potential involvement of BMP2 in the sheep tail formation [ 29 ]. Genes linked with the skeletal tail phenotype, including HOXB13 , NR5A1 , NR6A1 , KDM6B , and NR3C1 , have also been proposed to play a major role in the adaptation of African sheep [ 30 ]. In addition, allele-specific expression (ASE) in thin-tailed Texel sheep and fat-rumped Kazakh sheep was investigated [ 31 ].…”

Ovine HOXB13: expanding the gene repertoire of sheep tail patterning and implications in genetic improvement

“…These include the platelet derived growth factor D (PDGFD) gene 1,11,12 and the intergenic region between the bone morphogenetic protein 2 (BMP2) and hydroxyacid oxidase 1 (HAO1) genes, referred to as the IBH region [13][14][15] linked with the fat-tail phenotype, and the T-box transcription factor T (TBXT) gene [16][17][18] linked with variations in caudal vertebrae. Recent studies highlighted a new gene, HOXB13, which is highly associated with the sheep tail length [19][20][21][22][23] (Table 1). Of these studies, two independent efforts, one recently published in Communications Biology 23 and the other published as a preprint 21 , strongly highlighted a structural variation (SV) in the form of a short insertion associated with the longtail phenotype, adding a new critical member to the gene repertoire of the sheep tail configuration.…”

“…HOXB13 as a controller of long and short tails: variant determination in the ovine context In recent studies [21][22][23] , the HOXB13 gene was first highlighted to be significantly associated with the sheep tail phenotype in a genomic comparison that included Ethiopian fat-rumped and short fat-tailed sheep breeds vs. Ethiopian long fat-tailed and Sudanese long thin-tailed sheep breeds 22 . In this genomic analysis, a haplotype specific to Ethiopian long fat-tailed and Sudanese long thin-tailed sheep breeds was highlighted (top variant: rs428121282; chr11:37,338,422; Oar_v3.1) 22 .…”

“…HOXB13 as a controller of long and short tails: variant determination in the ovine context In recent studies [21][22][23] , the HOXB13 gene was first highlighted to be significantly associated with the sheep tail phenotype in a genomic comparison that included Ethiopian fat-rumped and short fat-tailed sheep breeds vs. Ethiopian long fat-tailed and Sudanese long thin-tailed sheep breeds 22 . In this genomic analysis, a haplotype specific to Ethiopian long fat-tailed and Sudanese long thin-tailed sheep breeds was highlighted (top variant: rs428121282; chr11:37,338,422; Oar_v3.1) 22 . Subsequently, by applying the long-read PacBio sequencing and verifying the frequency spectrum of SVs in an expanded dataset, the most differentiated SV was detected as insertion of 169 bp (chr11:37,525,005; ARS-UI_Ramb_v2.0) close to the 5' untranslated region (5'UTR) of the HOXB13 gene 21 .…”

“…It is not surprising that all the detected genes for the sheep tail phenotype (PDGFD, BMP2, TBXT, and HOXB13) have a relationship with cancer development and progression [32][33][34][35] . The above-mentioned four genomic signals were detected to influence the sheep tail phenotype at both levels, the caudal vertebrae number (TBXT and HOXB13) [16][17][18][19][20][21][22][23] and the level of tail fat deposition (PDGFD and BMP2) 1,[11][12][13][14][15]36 . Thus, making the genetic framework of the sheep tail phenotype clearer to be inferred.…”