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Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.
Pierre Chambon was the founder of the Institute for Genetics and Cellular and Molecular Biology in Strasbourg, France. He was one of the leading molecular biologists who utilized gene cloning and sequencing technology to first decipher the structure of eukaryotic genes and their modes of regulation. His major contributions to science include the identification of RNA polymerase II(B), the identification of transcriptional control elements, the cloning and dissection of nuclear hormone receptors, revealing their structure and showing how they contribute to human physiology. His group was also one of the first to demonstrate, biochemically and electron-microscopically, that the nucleosome is the smallest unit of chromatin. He accomplished much of his work in the 1970-90s.
Ronald Mark Evans is an American Biologist, Professor and Head of the Salk’s Gene Expression Laboratory, and the March of Dimes Chair in Molecular and Developmental Biology at the Salk Institute for Biological Studies in La Jolla, California and a Howard Hughes Medical Institute Investigator. Dr. Ronald M. Evans is known for his original discoveries of nuclear hormone receptors (NR), a special class of transcriptional factor, and the elucidation of their universal mechanism of action, a process that governs how lipophilic hormones and drugs regulate virtually every developmental and metabolic pathway in animals and humans. Nowadays, NRs are among the most widely investigated group of pharmaceutical targets in the world, already yielding benefits in drug discovery for cancer, muscular dystrophies, osteoporosis, type II diabetes, obesity, and cardiovascular diseases. His current research focuses on the function of nuclear hormone signaling and their function in metabolism and cancer.
Walter Jakob Gehring was a Swiss developmental biologist who was a professor at the Biozentrum Basel of the University of Basel, Switzerland. He obtained his PhD at the University of Zurich in 1965 and after two years as a research assistant of Ernst Hadorn he joined Alan Garen's group at Yale University in New Haven as a postdoctoral fellow.
Kevin P. Campbell is an Investigator for the Howard Hughes Medical Institute, UI Foundation Distinguished Professor, the Roy J. Carver Chair of Molecular Physiology and Biophysics, and head of the department; he is also professor of neurology and internal medicine at the University of Iowa.
Utrophin is a protein that in humans is encoded by the UTRN gene.
Dame Kay Elizabeth Davies is a British geneticist. She is Dr Lee's Professor of Anatomy at the University of Oxford and a Fellow of Hertford College, Oxford. She is director of the Medical Research Council (MRC) functional genetics unit, a governor of the Wellcome Trust, a director of the Oxford Centre for Gene Function, and a patron and Senior Member of Oxford University Scientific Society. Her research group has an international reputation for work on Duchenne muscular dystrophy (DMD). In the 1980s, she developed a test which allowed for the screening of foetuses whose mothers have a high risk of carrying DMD.
Originally identified as Kirsten ras associated gene (krag), Sarcospan (SSPN) is a 25-kDa transmembrane protein located in the dystrophin-associated protein complex of skeletal muscle cells, where it is most abundant. It contains four transmembrane spanning helices with both N- and C-terminal domains located intracellularly. Loss of SSPN expression occurs in patients with Duchenne muscular dystrophy. Dystrophin is required for proper localization of SSPN. SSPN is also an essential regulator of Akt signaling pathways. Without SSPN, Akt signaling pathways will be hindered and muscle regeneration will not occur.
Dystrobrevin is a protein that binds to dystrophin in the costamere of skeletal muscle cells. In humans, there are at least two isoforms of dystrobrevin, dystrobrevin alpha and dystrobrevin beta.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.
Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.
Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.
Victor R. Ambros is an American developmental biologist who discovered the first known microRNA (miRNA). He is a professor at the University of Massachusetts Medical School in Worcester, Massachusetts.
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Eric Newell Olson is an American molecular biologist. He is professor and chair of the Department of Molecular Biology at the University of Texas Southwestern Medical Center in Dallas, where he also holds the Robert A. Welch Distinguished Chair in Science, the Annie and Willie Nelson Professorship in Stem Cell Research, and the Pogue Distinguished Chair in Research on Cardiac Birth Defects.
Ronald G. Worton is a Canadian doctor.
Davor Solter is a Yugoslavian-born developmental biologist, particularly known for his pioneering work on mammalian genomic imprinting. He is Emeritus Member and Director, Max Planck Institute of Immunobiology and Epigenetics; Visiting International Professor, Siriraj Center for Excellence in Stem Cell Research, Mahidol University, Thailand; and Visiting Professor, University of Zagreb Medical School.
References
- ↑ Natvig, Jacob V.; Capra, J. Donald (2006). "Henry G. Kunkel. 1916-1983" (PDF). Biographical Memoirs. Washington D.C.: National Academy of Sciences. pp. 2–19.
- ↑ Gitschier J (2005). "2004 William Allan Award Address. Introductory speech for Louis Kunk". Am J Hum Genet. 76 (2): 203–4. doi:10.1086/427957. PMC 1196362 . PMID 15714694.
- ↑ Boston Children's Hospital
- ↑ Hoffman EP, Brown RH, Kunkel LM (1987). "Dystrophin: the protein product of the Duchenne muscular dystrophy locus". Cell. 51 (6): 919–28. doi:10.1016/0092-8674(87)90579-4. PMID 3319190. S2CID 33548364.
- ↑ Bloomberg profile
- ↑ Discovery Could Speed Diagnoses of Dystrophy by HAROLD M. SCHMECK Jr. published in the May 26, 1988 issue of The New York Times
- ↑ Royal Society list of Past Winners
- ↑ The Gairdner Foundation page on Louis M. Kunkel
- ↑ E. Mead Johnson Award - Past Recipients page
- ↑ "William Allan Award at Past ASHG Award Recipients". Archived from the original on 2014-10-03. Retrieved 2015-10-22.
- ↑ MARCH OF DIMES PRIZE IN DEVELOPMENTAL BIOLOGY RECIPIENT LIST (pdf)
