OMIA 002229-34892 : Hypotrichosis, HR-related in Neophocaena phocaenoides
Category: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: Also known as Hairless
Molecular basis: Chen et al. (2013) reported evidence that the HR gene in cetaceans, including Neophocaena phocaenoides, has degenerated into a non-functional pseudogene, which is consistent with the hairlessness of this species.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HR||Neophocaena phocaenoides||-||no genomic information (-..-)||HR||Ensembl|
|2013||Chen, Z., Wang, Z., Xu, S., Zhou, K., Yang, G. :|
|Characterization of hairless (Hr) and FGF5 genes provides insights into the molecular basis of hair loss in cetaceans. BMC Evol Biol 13:34, 2013. Pubmed reference: 23394579. DOI: 10.1186/1471-2148-13-34.|
- Created by Frank Nicholas on 27 Jan 2020