OMIA 002387-9031 : Dwarfism, bantam in Gallus gallus

Category: Skeleton phene (incl. short stature & teeth)

Links to MONDO diseases: No links.

Mendelian trait/disorder: no

Considered a defect: no

Key variant known: no

Species-specific description: Yu et al. (2021): “Three distinct types of dwarfism have been described in chickens based on the physiological and genetic properties: sex-linked dwarfism, which is well studied and caused by mutations in the growth hormone receptor gene (GHR) (Agarwal et al., 1994; Burnside et al., 1992) [see OMIA 000309-9031 : Dwarfism, sex-linked in Gallus gallus for references]; autosomal dwarfism (adw) that is associated with a nonsense mutation in the transmembrane protein 263 gene (TMEM263) (Wu et al., 2018) [see OMIA 000303-9031 : Dwarfism, autosomal in Gallus gallus for reference]; and third the bantam phenotype.”

Yu et al. (2021) “used whole-genome sequence data for comprehensive genomic analyses to investigate the genetic architecture of the bantam phenotype [in Dutch chicken breeds].”

Mapping: Yu et al. (2021) “Genomic DNA was isolated from 135 samples of 37 breeds …. We collected samples representing: (1) true bantams, which include the Dutch true bantam breeds and true bantams of Asian origin; (2) normal-sized Dutch traditional native breeds; and (3) neo-bantam counterparts of the Dutch native breeds. we identify three groups derived from the three major bantam sources reported, which are the Dutch bantam (group 1), Sebright and Java bantam (group 2), and other miscellaneous bantams including south-east Asian and productive breeds (group 3). … We used genomic analyses to show that the bantam phenotype is a complex trait caused by multiple underlying genes, which shows heterogeneity across the historical groups. We report bantam-associated genes in these group-based studies, including HMGA2 and PRDM16 ….”

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
HMGA2 high mobility group AT-hook 2 Gallus gallus 1 NC_052532.1 (34330768..34439314) HMGA2 Homologene, Ensembl, NCBI gene
PRDM16 PR domain containing 16 Gallus gallus 21 NC_052552.1 (1428022..1029448) PRDM16 Homologene, Ensembl, NCBI gene

Reference


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2021 Wu, Z., Bortoluzzi, C., Derks, M.F.L., Liu, L., Bosse, M., Hiemstra, S.J., Groenen, M.A.M., Crooijmans, R.P.M.A. :
Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses. Evol Appl 14:1095-1108, 2021. Pubmed reference: 33897823. DOI: 10.1111/eva.13183.

Edit History


  • Changed by Imke Tammen2 on 14 Aug 2021
  • Created by Imke Tammen2 on 14 Aug 2021