SJMack

Steve Mack, PhD
Assistant Scientist
Overview
Research
Publications

 

 

Email
Phone: 510-597-7145

 

Research

Introduction
The classical Human Leucocyte Antigen (HLA) loci are the most polymorphic loci in the human genome, with more than 13,000 alleles known.  The extensive nature of HLA polymorphism, and its uneven distribution between human populations, makes for highly informative and convenient markers for studies of individual ancestry, population genetics, the peopling history of the world, natural selection and protein evolution.

HLA proteins are found on the surfaces of all nucleated cells, and present endogenous and exogenous peptides to T-cells, permitting the distinction to be drawn between self-and non-self-tissues, and initiating specific immune responses.  HLA interaction with T-cells and NK-cells is central to understanding immune-related disease; in many cases (e.g., type-1-diabetes and ankylosing spondylitis), the HLA region is the major genetic determinant of disease.

Our goal in studying HLA is to understand the mechanisms by which HLA polymorphism results in susceptibility and resistance to cancers, and infectious and autoimmune diseases, to determine how HLA polymorphism is distributed on a global scale; understand how natural selection has acted to maintain our species’ high level of HLA diversity; and make inferences about human history by relating the distribution of HLA polymorphism to global patterns of disease prevalence.

In order to achieve these goals, specialized tools and methods of data-exchange, -reporting and analysis are needed. Historically, HLA data have been generated with a wide variety of methods that afford very little insight into the extent to which similar data may be equivalent across methods and laboratories, and which cannot easily be evaluated in the light of new sequence variation and new technologies.

Our aim is facilitate our work with collaborators, and the work of the larger immunogenetics and immunogenomics communities, by developing community standards for reporting and exchanging HLA and KIR data, and software tools for managing and analyzing HLA and KIR data

 

 

Revised: October 22, 2015 11:11 AM

 

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