Animal study finds link between MAP2 mutation and hereditary hair diseases

November 21, 2019

The genetic mechanism of hereditary human hair diseases, such as alopecia and thinning hair, has drawn much attention in human genetics research, yet many questions around this mechanism persist. A recent animal study in The FASEB Journal revealed that a mutation in the gene that encodes a protein called MAP2 (for "microtubule-associated protein 2") may be an essential component of the hairless phenotype.

Researchers from China Agricultural University (CAU) selected two groups (i.e., an adult group and a newborn group) of normal and hairless pigs. Pigs were chosen as an appropriate model for the study due to their high homology with humans. Researchers first examined differences in hair follicles and skin between the normal and hairless pigs. They found that the hair follicle densities of the normal pigs were much higher than those of the hairless pigs.

Next, the researchers used sequencing and molecular experiments to examine genetic differences between the normal and hairless pigs. Their findings revealed that protein coding gene MAP2 was strongly associated with the hairless trait. Further, they found that a missense mutation (i.e., the substitution of one amino acid for another in a DNA base pair) in the MAP2 gene led to decreased hair follicle density in the embryonic stage, which resulted in hair follicles not forming normally.

"To the best of our knowledge, we believe this is the first time MAP2 has been associated with hair follicle morphogenesis," said Xiangdong Ding, PhD, a researcher in CAU's Department of Animal Breeding and Genetics in Beijing. "Further exploration of this mechanism could result in a potential cure for hereditary hair diseases through gene editing."

Outside of the main finding in this study, the study also demonstrated that hairless pigs can serve as an ideal animal model for human hair diseases.

"How fascinating it is when an unanticipated gene is implicated in a particular trait - this one encoding a cytoskeleton protein defined in the 1970's," said Thoru Pederson, PhD, Editor-in-Chief of The FASEB Journal. "Discoveries such as the present one resonate with our appetite for surprise."
-end-
The FASEB Journal is published by the Federation of the American Societies for Experimental Biology (FASEB). The world's most cited biology journal according to the Institute for Scientific Information, it has been recognized by the Special Libraries Association as one of the top 100 most influential biomedical journals of the past century.

FASEB is composed of 29 societies with more than 130,000 members, making it the largest coalition of biomedical research associations in the United States. FASEB's mission is to advance health and well-being by promoting research and education in biological and biomedical sciences through collaborative advocacy and service to member societies and their members.

Federation of American Societies for Experimental Biology

Related Protein Articles from Brightsurf:

The protein dress of a neuron
New method marks proteins and reveals the receptors in which neurons are dressed

Memory protein
When UC Santa Barbara materials scientist Omar Saleh and graduate student Ian Morgan sought to understand the mechanical behaviors of disordered proteins in the lab, they expected that after being stretched, one particular model protein would snap back instantaneously, like a rubber band.

Diets high in protein, particularly plant protein, linked to lower risk of death
Diets high in protein, particularly plant protein, are associated with a lower risk of death from any cause, finds an analysis of the latest evidence published by The BMJ today.

A new understanding of protein movement
A team of UD engineers has uncovered the role of surface diffusion in protein transport, which could aid biopharmaceutical processing.

A new biotinylation enzyme for analyzing protein-protein interactions
Proteins play roles by interacting with various other proteins. Therefore, interaction analysis is an indispensable technique for studying the function of proteins.

Substituting the next-best protein
Children born with Duchenne muscular dystrophy have a mutation in the X-chromosome gene that would normally code for dystrophin, a protein that provides structural integrity to skeletal muscles.

A direct protein-to-protein binding couples cell survival to cell proliferation
The regulators of apoptosis watch over cell replication and the decision to enter the cell cycle.

A protein that controls inflammation
A study by the research team of Prof. Geert van Loo (VIB-UGent Center for Inflammation Research) has unraveled a critical molecular mechanism behind autoimmune and inflammatory diseases such as rheumatoid arthritis, Crohn's disease, and psoriasis.

Resurrecting ancient protein partners reveals origin of protein regulation
After reconstructing the ancient forms of two cellular proteins, scientists discovered the earliest known instance of a complex form of protein regulation.

Sensing protein wellbeing
The folding state of the proteins in live cells often reflect the cell's general health.

Read More: Protein News and Protein Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.