B4GALNT2 is a vital candidate gene that affects the growth traits litter size in and growth traits of sheep, but whether it has the same function in goats remains to be further investigated. In this study, we utilized 348 Nanjiang Yellow goats as experimental subjects, conducted a whole exon, and the conserved the non-coding region SNP scanning of the B4GALNT2 gene. Our results revealed the presence of a synonymous mutation, rs672215506, within the exon of the B4GALNT2 gene in the Nanjiang Yellow goat population. This mutation was found to be associated with reduced mRNA stability of the B4GALNT2 gene. The results of SNPs detection of conserved non-coding region of B4GALNT2 gene showed that there were five potential regulatory SNPs in the Nanjiang Yellow goat population, except for rs66095343, the ~500 bp fragments of four SNPs (rs649127714, rs649573228, rs652899012 and rs639183528) could significantly increase luciferase activity both in goat skeletal muscle cells and 293T cells . Genetic diversity indexes indicated low or intermediate levels for all six SNPs analyzed, each conforming to Hardy-Weinberg equilibrium regarding genotypic frequencies. Association analysis indicated that rs660965343, rs649127714 and rs649573228 were significantly correlated with growth traits in the later stage of growth and development of Nanjiang Yellow goat. The haplotype combinations of H2H3 and H2H2 had higher body weight and greater body size; moreover, H2H2 haplotype combinations were significantly correlated with the litter size of Nanjiang Yellow goat. The results of our study demonstrate the potential utility of the B4GALNT2 gene as a functional genetic marker in breeding programs for Nanjiang Yellow goats.

The carbohydrate antigen Sda is expressed on cells and secretions of the vast majority of Caucasians. The epitope is formed by a terminal GalNAc residue β4-linked to a α3-sialylated galactose. Different carbohydrate chains N- or O-linked to glycoproteins can be terminated by this epitope. The final step of Sda biosynthesis is catalyzed by the GalNAc transferase B4GALNT2. In this review, we will discuss the multifaceted aspects of B4GALNT2/Sda biology. In particular, we will see its implications in fertility and pregnancy, in susceptibility to infectious diseases, in chronic kidney diseases and in Duchene muscular dystrophy. In particular, we will show its regulation and prognostic implications in cancer.

Injuries to the anterior cruciate ligament (ACL) often result in post-traumatic osteoarthritis (PTOA). To better understand the molecular mechanisms behind PTOA development following ACL injury, we profiled ACL injury-induced gene expression changes in knee joints of three mouse strains with varying susceptibility to OA: STR/ort (highly susceptible), C57BL/6 (moderately susceptible) and super-healer MRL/MpJ (not susceptible). Right knee joints of the mice were injured using a non-invasive tibial compression injury model that closely mimics ACL rupture in humans and global gene expression was quantified before and at 1-day, 1-week, and 2-weeks post-injury using RNA-seq. Following injury, STR/ort displayed severe cartilage degeneration while MRL/MpJ had little cartilage damage. Gene expression analysis suggested that prolonged inflammation and elevated catabolic activity in STR/ort injured joints, compared to the other two strains may be responsible for the severe PTOA phenotype observed in this strain. MRL/MpJ had the lowest expression values for several inflammatory cytokines and catabolic enzymes activated in response to ACL injury. Furthermore, we identified several genes highly expressed in MRL/MpJ compared to the other two strains including B4galnt2 and Tpsab1 which may contribute to enhanced healing in the MRL/MpJ. Overall, this study has increased our knowledge of early molecular changes associated with PTOA development.