OMIA:002721-9940 : Tail, length, HOXB13-related in Ovis aries (sheep)

Categories: Skeleton phene (incl. short stature & teeth) , Limbs / fins / digit / tail phene

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. [2023] 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."

Associated gene:

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

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002721-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

Edit History

  • Created by Imke Tammen2 on 15 Jun 2023
  • Changed by Imke Tammen2 on 15 Jun 2023