Research output per year
Research output per year
Zhou Wu, Martijn F.L. Derks, Bert Dibbits, Hendrik Jan Megens, Martien A.M. Groenen, Richard P.M.A. Crooijmans*
Research output: Contribution to journal › Article › Academic › peer-review
Autosomal dwarfism (adw) in chickens is a growth deficiency caused by a recessive mutation. Characteristic for adw is an approximately 30% growth reduction with short shank. The adw variant was first recognized in the Cornell K-strain of White Leghorns, but the genetic causal variant remained unknown. To identify the causal variant underlying the adw phenotype, fine mapping was conducted on chromosome 1, within 52-56 Mb. This region was known to harbor the causal variant from previous linkage studies. We compared whole-genome sequence data of this region from normal-sized and adw chickens in order to find the unique causal variant. We identified a novel nonsense mutation NP_001006244.1:p.(Trp59*), in the transmembrane protein 263 gene (TMEM263), completely associated with adw. The nonsense mutation truncates the transmembrane protein within the membrane-spanning domain, expected to cause a dysfunctional protein. TMEM263 is reported to be associated with bone mineral deposition in humans, and the protein shows interaction with growth hormone 1 (GH1). Our study presents molecular genetic evidence for a novel loss-of-function variant, which likely alters body growth and development in autosomal dwarf chicken.
Original language | English |
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Article number | 193 |
Journal | Frontiers in Genetics |
Volume | 9 |
DOIs | |
Publication status | Published - 7 Jun 2018 |
Research output: Contribution to journal › Comment/Letter to the editor › Academic
Wu, Z. (Creator), Derks, M. F. L. (Creator), Dibbits, B. W. (Creator), Megens, H. J. W. C. (Creator), Groenen, M. (Creator) & Crooijmans, R. P. M. A. (Creator), Wageningen University & Research, 16 May 2018
https://www.ebi.ac.uk/ena/data/view/PRJEB25937
Dataset
Veerkamp, R. (Project Leader)
1/01/14 → 31/12/21
Project: LVVN project