Schistosomus reflexus

Phene ID

2596

Name

Schistosomus reflexus

Phene Name

N/A

OMIA ID

890

Species ID

9913

Characterised

No

Characterised Year

N/A

Jacinto et al. (2024) "collected a series of 23 [schistosomus reflexus] SR-affected calves from four breeds (20 Holstein, one Red Danish, one Limousin, one Romagnola) and performed whole-genome sequencing (WGS). ... Sequencing-based genome-wide association studies with 20 Holstein cases and 154 controls showed no association ... . Assuming a monogenic recessive inheritance, no region of shared homozygosity was observed, suggesting heterogeneity. Alternatively, the presence of possible dominant acting de novo mutations were assessed. In Group 1, heterozygous private variants, absent in both parents, were found in seven cases. These involved the ACTL6A, FLNA, GLG1, IQSEC2, MAST3, MBTPS2, and MLLT1 genes. In addition, heterozygous private variants affecting the genes DYNC1LI1, PPP2R2B, SCAF8, SUGP1, and UBP1 were identified in five cases from Group 2. The detected frameshift and missense variants are predicted to cause haploinsufficiency. ... This study presents for the first time a detailed genomic evaluation of bovine SR, suggesting that independent de novo mutations may explain the sporadic occurrence of SR in cattle."