OMIA:002721-9940 : Tail, length, HOXB13-related in Ovis aries (sheep)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Mapping: Lagler et al. (2022) analysed "the natural tail length variation in the Merinolandschaf ... to identify causal alleles for the short tail phenotype segregating within long-tailed breeds. We used SNP-based association analysis and haplotype-based mapping in 362 genotyped (Illumina OvineSNP50) and phenotyped Merinolandschaf lambs. Genome-wide significant regions were capture sequenced in 48 lambs and comparatively analyzed in various long and short-tailed sheep breeds and wild sheep subspecies. ... [The authors report] a SNP [rs413316737] located in the first exon of HOXB13 and a SINE element located in the promotor of HOXB13 as promising candidates. ... While we were investigating ... [the SINE elelment] region on ARS-UI_Ramb_v2.0 assembly, we came across a pre-print by Li et al.  who reported an insertion in the same region."
Li et al. (2023) "compared [structural variants] SVs in the long (Asian long fat-tailed and European long thin-tailed) with those in short-tailed (Asian short fat-tailed and North European short thin-tailed) breeds within the 649 domestic sheep ... The most significant variation pointed to an ∼168-bp insertion (Chr 11: 37,525,005) adjacent to the annotated 5′ UTR of HOXB13 ... . ... We measured the tail length of 201 individuals from an East Friesian × (Hu sheep × East Friesian) hybrid population and performed a genome-wide association study (GWAS) using a 40K SNP chip (see Methods) and found that the regions surrounding the 168-bp insertion are clearly associated with tail length ... . ... The tails of individuals homozygous for the insertion were found to be significantly longer than tails of the heterozygotes by 2.77 cm on average ... ."
Molecular basis: Li et al. (2023): "A novel 168-bp insertion in the 5' untranslated region (5' UTR) of HOXB13 is found at high frequency in long-tailed sheep. Further genome-wide association study and gene expression analyses suggest that this mutation is causative for the long-tail trait."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HOXB13||homeobox B13||Ovis aries||11||NC_056064.1 (37525009..37530787)||HOXB13||Homologene, Ensembl , NCBI gene|
Cite this entry
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.
|2023||Li, R., Gong, M., Zhang, X., Wang, F., Liu, Z., Zhang, L., Yang, Q., Xu, Y., Xu, M., Zhang, H., Zhang, Y., Dai, X., Gao, Y., Zhang, Z., Fang, W., Yang, Y., Fu, W., Cao, C., Yang, P., Ghanatsaman, Z.A., Negari, N.J., Nanaei, H.A., Yue, X., Song, Y., Lan, X., Deng, W., Wang, X., Pan, C., Xiang, R., Ibeagha-Awemu, E.M., Heslop-Harrison, P.J.S., Rosen, B.D., Lenstra, J.A., Gan, S., Jiang, Y. :|
|A sheep pangenome reveals the spectrum of structural variations and their effects on tail phenotypes. Genome Res 33:463-477, 2023. Pubmed reference: 37310928 . DOI: 10.1101/gr.277372.122.|
|2022||Lagler, D.K., Hannemann, E., Eck, K., Klawatsch, J., Seichter, D., Russ, I., Mendel, C., Lühken, G., Krebs, S., Blum, H., Upadhyay, M., Medugorac, I. :|
|Fine-mapping and identification of candidate causal genes for tail length in the Merinolandschaf breed. Commun Biol 5:918, 2022. Pubmed reference: 36068271 . DOI: 10.1038/s42003-022-03854-3.|
- Created by Imke Tammen2 on 15 Jun 2023
- Changed by Imke Tammen2 on 15 Jun 2023