William Atkins
Monday, 05 January 2009 21:00
Science -
Biology
Page 2 of 2
The paper summarizing the work of Dr. Zhang, Yang Liu, Yi8ming Xu, Yiwei Zhao, and colleagues is entitled “
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.”
It appeared in the journal
Nature Genetics on January 4, 2009 (doi: 10.1038/ng.276)
The found that U2HR (found on chromosome 8) is a critical switch in the process deciding whether children have this balding disease or not.
U2HR controls a tiny peptide that, itself, affects a known protein called the human hairless monolog (HR), which is important for the growth and regeneration of hair follicles.
They stated,
“In a large Chinese family carrying MUHH, we identified a pathogenic initiation codon mutation in U2HR, an inhibitory upstream ORF in the 5' UTR of the gene encoding the human hairless homolog (HR). U2HR is predicted to encode a 34–amino acid peptide that is highly conserved among mammals.”
The researchers studied eighteen families from several ancestral backgrounds. They
“... identified a range of defects in U2HR, including loss of initiation, delayed termination codon and nonsense and missense mutations. Functional analysis showed that these classes of mutations all resulted in increased translation of the main HR physiological ORF.”
They concluded,
“Our results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.
The discovery should help to spur development of drugs that could prevent MUHH and it also offers hope that baldness may someday be cured.