Final PhD Seminar

Title: Identification and characterization of the genetic cause responsible for the matted mouse phenotype


The skin barrier plays an essential role in protecting the body from external assaults and maintaining homeostasis. In recent years, many molecular participants behind the extensive remodeling of the epidermis have been uncovered, but the exact mechanisms are currently still unknown. The work in this thesis focuses on identifying the gene responsible for the phenotype of the Mattma/ma (matted) mouse by separating it from the Mattma/maFlgft/ft double mutant, and using data obtained from homozygosity mapping and whole transcriptome sequencing. The novel gene Tmem79 (transmembrane 79) was discovered to be the cause of the hair shaft defects and general atopic phenotype of the matted mouse. Further characterization of TMEM79 was carried out in human epidermis, localizing it to the upper granular layers, with evidence that it is involved with lamellar granule (LG) transport. Sequencing of several human atopic dermatitis (AD) populations identified a common missense variant in the TMEM79 gene, showing a small but significant protective association with AD. This research sheds light on an exciting new player involved in skin differentiation, with the potential to be implicated in diseases with aberrant LG transport

Event Speaker: 
Christabelle Goh Si Mei
Event Institution: 
Dermatology and Genetic Medicine
Event Date: 
Wednesday, September 18, 2013 - 10:00
Event Location: 
MSI Small Lecture Theatre
Event Type: