OMIA:002872-9913 : Lymphocyte intestinal retention defect in Bos taurus (taurine cattle) |
Categories: Mortality / aging (incl. embryonic lethal) , Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 147559 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Species-specific name: Bovine lymphocyte intestinal retention defect, BLIRD
Species-specific symbol: BLIRD
Molecular basis: Besnard et al. (2023) "present a data-mining framework designed to detect recessive defects in livestock that have been previously missed due to a lack of specific signs, incomplete penetrance, or incomplete linkage disequilibrium. This approach leverages the massive data generated by genomic selection. Its basic principle is to compare the observed and expected numbers of homozygotes for sliding haplotypes in animals with different life histories. Within three cattle breeds, we report 33 new loci responsible for increased risk of juvenile mortality and present a series of validations based on large-scale genotyping, clinical examination, and functional studies for candidate variants affecting the NOA1, RFC5, and ITGB7 genes."
Clinical features: Besnard et al. (2023) "examined 13 case-control pairs of heifers on farms. Homozygous mutants showed stunted growth with a 27% reduction in average daily gain and significant alterations in hematological parameters, such as outstanding WBC and lymphocyte counts ... . ... [P]opulation-level analyses revealed delayed age at first insemination ... , adverse effects on production traits ... , and premature culling in homozygous mutants compared to other genotypes ... ."
Pathology: Besnard et al. (2023) "necropsied three homozygous mutant heifers. Although [the authors] did not find any specific gross lesions, [they] observed a complete absence of α4β7pos CD45ROpos memory CD4 T cells in the lamina propria of the jejunum ... ."
Breed:
Holstein Friesian (Cattle) (VBO_0000239).
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).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ITGB7 | integrin subunit beta 7 | Bos taurus | 5 | NC_037332.1 (26796917..26811773) | ITGB7 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1716 | Holstein Friesian (Cattle) | Bovine lymphocyte intestinal retention defect | ITGB7 | BLIRD | missense | Naturally occurring variant | ARS-UCD1.3 | 5 | NC_037332.1:g.26807079G>A | NP_001098835.1:904G>A | NP_001098835.1:p.(G302S) | Published as ENSBTAT00000025279.5:p.(G375S) | rs444441523 | 2023 | Reference not in PubMed; see OMIA 002872-9913 for reference details |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002872-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Leuenberger, T., Jacinto, J.P.G., Seefried, F.R., Drögemüller, C. : |
| BLIRD – eine neue genetische Erkrankung beim Holsteinrind in der Schweiz [BLIRD - a new genetic disease in Holstein cattle in Switzerland]. Schweiz Arch Tierheilkd 166:511-518, 2024. Pubmed reference: 39330956. DOI: 10.17236/sat00433. | |
| van den Berg, I., Nguyen, T.V., Nguyen, T.T.T., Pryce, J.E., Nieuwhof, G.J., MacLeod, I.M. : | |
| Imputation accuracy and carrier frequency of deleterious recessive defects in Australian dairy cattle. J Dairy Sci 107:9591-9601, 2024. Pubmed reference: 38945256. DOI: 10.3168/jds.2024-24780. | |
| 2023 | Besnard, F., Guintard, A., Grohs, C., Guzylack-Piriou, L., Cano, M., Escouflaire, C., Hoze, C., Leclerc, H., Buronfosse, T., Dutheil, L., Jourdain, J., et al. : |
| Massive detection of cryptic recessive genetic defects in cattle mining millions of life histories. bioRxiv :2023.09.22.558782, 2023. DOI: 10.1101/2023.09.22.558782. URL: https://www.biorxiv.org/content/10.1101/2023.09.22.558782v1.full.pdf. |
Edit History
- Created by Imke Tammen2 on 23 Aug 2024
- Changed by Imke Tammen2 on 23 Aug 2024