HR gene

HR (HR stands for HR Lysine Demethylase And Nuclear Receptor Corepressor) is a protein coding gene located on chromosome . 8p21.3. Two transcript variants encoding different isoforms have been found for this gene.

The HR gene encodes the protein of the same name, which has an important function in hair growth. The encoded HR protein, a histone demethylase, specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. This demethylase may function as a transcriptional regulator that controls hair biology (via targeting of collagens), neural activity, and the cell cycle. Translation of this protein is modulated by a regulatory open reading frame (ORF) upstream of the primary ORF. Mutations in this upstream ORF cause hereditary Marie Unna hypotrichosis, an autosomal dominant form of genetic hair loss.

Diseases associated with HR include:

• Alopecia Universalis Congenita
• autosomal recessive congenital alopecia and atrichia with papular lesions (atrichia congenita with horny cysts)

1. Ahmad W et al (1998) A. M. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet 63: 984-991.
2. Damste TJ et al (1954) Atrichia with papular lesions: variant of congenital ectodermal dysplasia. Dermatologica 108: 114-122.
3. Henn W et al (2002) Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: a lesson for differential diagnosis of alopecia universalis. J Am Acad Derm 47: 519-523.
4. Hillmer AM et al (2001) Variant 1859G-A (arg620 to gln) of the 'hairless' gene: absence of association with papular atrichia or androgenetic alopecia. (Letter) Am J Hum Genet 69: 235-237.
5. Kim H et al. (2007) Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. J Derm Sci 48: 207-211.
6. Loewenthal LJA et al (1961) Atrichia with papular lesions. Dermatologica 122: 85-89.
7. Miller J et al (2001) Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J Invest Derm 117: 612-617.
8. Paller AS et al (2003) Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. J Invest Derm 121: 430-432.
9. Sprecher E et al (1999) Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. Am J Hum Genet 64: 1323-1329.
10. Sprecher E et al (1998) Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. Am J Med Genet 80: 546-550.
11. Sprecher E et al (2000) Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene. J Am Acad Derm 42: 978-982.
12. Zlotogorski A et al. 2002) Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Derm 118: 887-890.