Bob Rice, PhD
University of California, Davis,CA

Dr. Bob Rice

A frequent problem in diagnosis and treatment of the ichthyoses is to understand the molecular basis for the severity of the disease. Patients with the same genetic diagnosis, for example, may suffer a range of severities. This project investigates whether variations in the proteins expressed in the epidermis can help explain the variation in severity. To determine which proteins are present, epidermal scale is digested with a protease that produces specific protein fragments that are then analyzed by mass spectrometry. Preliminary results indicate that more than 50 proteins can be identified in this way and that samples from several ichthyosis patients show deficiencies in certain proteins. Building on this information, the present work will examine more samples and look for characteristic deficiencies. It will also seek more quantitative information on variations in levels of targeted proteins known or suspected of contributing to differences in severity. This information may also assist in monitoring or designing therapies.

UPDATE:  July 2015

Structural and BioChemical Changes Underlying a Kera-Derma like phenotype in mice lacking suprabasal AP1 transcripter factor function

2008 FIRST research grant recipient, Dr Bob Rice, recently submitted an update to his research on protein cells, and the molecular basis for a variety of severities within the same genetic diagnosis. In brief the update can be explained as follows:

Normally the epidermis forms a callus layer at the skin surface to protect us from our environment.  This results from an intricate program of cell differentiation, where the cells synthesize new proteins in an orderly sequence.  When this sequence is disturbed, various part of the program are deficient, often resulting in scaly skin and a damaged barrier to the environment.  In this mouse model for scaly skin, a transcription factor was prevented from functioning in the epidermis, leading to a deficiency of some important proteins.  To compensate, the epidermis made more of certain other proteins, where the resulting imbalance produced gross scaling.  Studying this mouse condition may permit understanding how the protein imbalance occurs and how it produces scaling in patients with ichthyosis and related skin types.

Structural and Biochemical Changes underlying a Keraderma-like Phenotype in mice lacking suprabasal AP1 transcriptor faction function

Cell Death and Disease (2015) 6, e167

PDF of full article.