A Columbia University Medical Center research team has discovered a new gene involved in determining hair texture in humans. The team's genetic analysis demonstrated that mutations in a gene, known as P2RY5, cause hereditary "woolly hair" — hair that is coarse, dry, tightly curled and sparse.
"Our findings indicate that mutations in the P2RY5 gene cause hereditary woolly hair. This is significant as it represents the discovery of the first new gene whose primary function seems to be the determination of hair texture in humans," said lead author Angela M. Christiano, Ph.D., the Richard and Mildred Rhodebeck Professor of Dermatology and Genetics & Development, at the Columbia University College of Physicians and Surgeons.
"This genetic finding may inform the development of new treatments for excessive or unwanted hair, or potentially hair growth." added Dr. Christiano.
Findings were published in an online edition of Nature Genetics at 1 p.m. EST on Sunday, February 24, 2008. The paper will appear in the journal's March print issue.
The genetic causes of hair texture in humans are largely unknown. Hair shafts emerge from the surface of the skin and display wide variability in texture and color among individuals of different populations around the world.
Since research has shown that woolly hair was common among Pakistani families, Dr. Christiano and her colleagues set out to determine why this type of hair was specific to this group of people. They hoped that finding the genetic basis of this unique type of hair would help them to distinguish other genetic hair types, and to learn more about the genetic underpinnings of different hair textures.
Much of Dr. Christiano's research has focused on dermatologic variants found in Pakistani families, as they often represent ideal subjects for genetic analyses as they tend to be relatively homogeneous, with close-knit families that tend to live nearby one another, and often intermarry.
To identify a gene involved in controlling hair texture, Dr. Christiano and her team performed a genetic analysis of six families of Pakistani origin, who all shared hereditary woolly hair. The cause of hereditary woolly hair was found to be a mutation in a gene called P2RY5. Until this discovery, the pathogenesis of hereditary woolly hair had been largely unknown.
As the authors write in the paper, "The bulb region of plucked hairs from woolly hair patients showed irregular bending without attachment of the root sheath." They propose that mutations in P2RY5 most likely result in hair follicle disruptions, which then compromise its anchoring to the hair shaft and cause the abnormal bending of the bulb region, leading to woolly hair.
Dr. Christiano's discoveries have led to the identification of several genes controlling human hair growth. It remains to be determined whether common variants on the P2RY5 gene can also contribute to naturally occurring variations in hair texture between different human populations.
According to the researchers, P2RY5 is the first gene of a type known as a G-protein coupled receptor (GPCR) implicated in a human hair disorder — thereby making it possible to develop drugs that target this receptor. GPCRs represent the largest known class of molecular targets with proven therapeutic value. It is estimated that more than 40 percent of existing drugs work by targeting GPCR drug targets; this target class represents a large fraction of the total biological targets against which FDA-approved oral drugs are directed. Of the top 200 best-selling prescription drugs more than 20 percent interact with GPCRs, providing worldwide sales of over $20 billion.
New yeast species discovered in Braunschweig, Germany
13.12.2019 | Leibniz-Institut DSMZ-Deutsche Sammlung von Mikroorganismen und Zellkulturen GmbH
Saliva test shows promise for earlier and easier detection of mouth and throat cancer
13.12.2019 | Elsevier
Vaccinia viruses serve as a vaccine against human smallpox and as the basis of new cancer therapies. Two studies now provide fascinating insights into their unusual propagation strategy at the atomic level.
For viruses to multiply, they usually need the support of the cells they infect. In many cases, only in their host’s nucleus can they find the machines,...
More than one hundred and fifty years have passed since the publication of James Clerk Maxwell's "A Dynamical Theory of the Electromagnetic Field" (1865). What would our lives be without this publication?
It is difficult to imagine, as this treatise revolutionized our fundamental understanding of electric fields, magnetic fields, and light. The twenty original...
In a joint experimental and theoretical work performed at the Heidelberg Max Planck Institute for Nuclear Physics, an international team of physicists detected for the first time an orbital crossing in the highly charged ion Pr⁹⁺. Optical spectra were recorded employing an electron beam ion trap and analysed with the aid of atomic structure calculations. A proposed nHz-wide transition has been identified and its energy was determined with high precision. Theory predicts a very high sensitivity to new physics and extremely low susceptibility to external perturbations for this “clock line” making it a unique candidate for proposed precision studies.
Laser spectroscopy of neutral atoms and singly charged ions has reached astonishing precision by merit of a chain of technological advances during the past...
The ability to investigate the dynamics of single particle at the nano-scale and femtosecond level remained an unfathomed dream for years. It was not until the dawn of the 21st century that nanotechnology and femtoscience gradually merged together and the first ultrafast microscopy of individual quantum dots (QDs) and molecules was accomplished.
Ultrafast microscopy studies entirely rely on detecting nanoparticles or single molecules with luminescence techniques, which require efficient emitters to...
Graphene, a two-dimensional structure made of carbon, is a material with excellent mechanical, electronic and optical properties. However, it did not seem suitable for magnetic applications. Together with international partners, Empa researchers have now succeeded in synthesizing a unique nanographene predicted in the 1970s, which conclusively demonstrates that carbon in very specific forms has magnetic properties that could permit future spintronic applications. The results have just been published in the renowned journal Nature Nanotechnology.
Depending on the shape and orientation of their edges, graphene nanostructures (also known as nanographenes) can have very different properties – for example,...
03.12.2019 | Event News
15.11.2019 | Event News
15.11.2019 | Event News
13.12.2019 | Physics and Astronomy
13.12.2019 | Physics and Astronomy
13.12.2019 | Materials Sciences