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Richard King, M.D., Ph.D.

Professor

Mailing Address:
University of Minnesota
Department of Genetics, Cell Biology, and Development
6-160 Jackson
321 Church St. SE
Minneapolis, MN 55455
USA
Education:
M.D. Jefferson Medical College, 1965
Ph.D. University of Minnesota, 1975
Office:
5-126 MCB
P: 612-624-6657
F: 612-624-6645

Email:
kingx002@umn.edu

Research Interests:

There are two major areas of emphasis in Dr. King's laboratory:
molecular basis of disease using the melanin pathway and human
oculocutaneous albinism as a model system, and the identification
of genes responsible for complex common diseases using automated
linkage analysis and gene mapping techniques.

Mutations of the tyrosinase gene on chromosome 11q produce OCA1
or tyrosinase related OCA, and more than 100 different mutations
of this gene have been identified. Mutations are analyzed by expression
studies to determine the effect of each mutation on residual enzyme
function and on the processing of the mutant enzyme in the ER and Golgi
before reaching the melanosome. Alleles of the tyrosinase gene associated
with albinism but having no mutation in the coding and promoter regions
of the gene indicate potential distant regulatory regions that are being
investigated. Structure: function studies of the tyrosinase enzyme, using
crystallography and three-dimensional structural analysis of the protein,
are underway in collaboration with the Structural Biochemistry group to
determine the functional domains of the enzyme and to investigate how
mutations alter enzyme function.

Mutations of the P gene on chromosome 15q are responsible for OCA2
or tyrosinase positive OCA, the most common type of OCA in humans,
and a large number of mutations of this gene has been identified. The
phenotypic range of OCA2 is being characterized through the analysis
of unusual families with OCA2, and the potential function of the P protein
are being explored, in collaborations with Murray Brilliant, Ph.D., University
of Arizona, and Vincent Hearing, Ph.D., NCI, NIH.

The most significant clinical problem in human albinism is the loss of visual
acuity associated with deficient melanin in the developing eye and optic system.
Gene expression microarray studies are being used to identify the effects of
melanin in the developing retina. The ability to repigment the retina in albino
animals is being investigated as a potential approach to therapy for the reduced
visual acuity in albinism.

The second area on emphasis in Dr. King's laboratory involves the development
of methods for mapping and identifying genes responsible for common diseases,
using asthma as a model. Large families with asthma have been collected, as part
of the Collaborative Study on the Genetics of Asthma (CSGA). Genome-wide screens,
using an automated system for rapid genotyping of individuals and families, have
identified several potential loci responsible for components of the asthma phenotype.
Individual genes are being screened and a single nucleotide polymorphism maps
are being developed for each region, in an attempt to identify the responsible
gene at each locus.


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Selected Publications:

King RA, Rotter J and Motulsky AG, editors. Genetic Basis of Common Diseases, 2ed Edition. Oxford University Press, New York, 2002.

Fryer JP, Oetting WS, Brott MJ, King RA. Alternative splicing of the human tyrosinase gene in human melanocytes and lymphoblastoid cell lines. Journal of Investigative Dermatology 117:1261-1265, 2001.

141. Mathias RA, Friedhoff LR, Blumenthal MN, Meyers DA, Lester L, King RA, Xu JF, Solway J, Barnes KC, Pierce J, Stein OC, Togias A, Oetting WS, Marshik PL, Hetmanski JB, Huang SK, Ehrlich E, Dunston GM, Malveaux F, Banks-Schlegel S, Cox NJ, Bleecker E, Ober C, Beaty TH, Rich SS, and the CSGA. A genome-wide linkage analysis of total serum IgE using variance components analysis in asthmatic families. Genetic Epidemiology 20:340-355, 2001.

Young TL, Ronan SM, Alvear AB, Dewan A, Peterson J, Atwood LD, Holleschau A, King RA. Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. Ophthalmologic Genetics 22:69-75, 2001.

Xu J, Meyers DA, Ober C, Blumenthal MN, Mellen B, Barnes K, King RA, Lester LA, Howard TD, Solway J, Langefeld CD, Beaty TH, Rich SS, Bleecker ER, Cox NJ, and the CSGA. Genomewide screen and identifying gene-gene interactions for asthma susceptibility loci in three U.S populations: Collaborative Study on the Genetics of Asthma (CSGA). American Journal of Human Genetics 68:1437-1446, 2001.

Newton J, Cohen-Barak O, Hagiwara N, Gardner J, Davisson MT, King RA, Brilliant MH. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. American Journal of Human Genetics 69:981-988, 2001.

Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, Wu X, Parry R, Lester LA, Solway J, Blumenthal M, King RA, Xu J, Meyers DA, Bleecker ER, Cox NJ. Variation in the interlukin-4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. American Journal of Human Genetics 66:517-526, 2000.



To view these and other publications visit http://www.ncbi.nlm.nih.gov/PubMed
search menu should say PubMed
type King RA in the avaliable line

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 Last modified on Thursday, February 1, 2007