OMIA:002672-9915 : Retinoblastoma, RBBP5-related in Bos indicus (indicine cattle (zebu))

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600697 (gene)

Mendelian trait/disorder: unknown

Considered a defect: unknown

Species-specific description: Surati et al. (2023) used bioinformatic tools to analyse ddRAD sequence data from 10 Shaiwal animals to predict deleterious DNA mutations in absence of records of genetic disease: "A total of 18 SNPs, were finally identified as deleterious, and among these, 12 SNPs were mapped on nine different genes. ERRAT, ProSA-web, Project HOPE, TM-Align, and YASSARA tools, further confirmed the protein malfunctioning of one missense (L290V) mutation of Retinoblastoma binding protein-5 (RBBP5) gene, transcribing a cell cycle regulatory protein and associated with Retinoblastoma in human."

Molecular basis: The in silico identified RBBP5 missense variant (rs516378737) identified by Surati et al. (2023) is located on chr16:2878780ā€‰Gā€‰>ā€‰C (ARS-UCD1.2) and the predicted change to the RBBP5 protein is p.(L290V). As the study was restricted to in silico DNA analysis it is unknown if the variant causes phenotypic change.

Breed: Sahiwal (Cattle) (VBO_0000365).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002672-9915: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2023 Surati, U., M, M., S, J., Verma, A., Niranjan, S.K. :
Genome-wide in silico analysis leads to identification of deleterious L290V mutation in RBBP5 gene in Bos indicus. Anim Biotechnol 34:4851-4859, 2023. Pubmed reference: 37051916. DOI: 10.1080/10495398.2023.2199502.

Edit History


  • Created by Imke Tammen2 on 23 Apr 2023
  • Changed by Imke Tammen2 on 23 Apr 2023