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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 , 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.

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  • Created by Imke Tammen2 on 23 Aug 2024
  • Changed by Imke Tammen2 on 23 Aug 2024