DUX4 and FSHD
WINTER 2008 Including Donors 2007 FSHA publication of the FacioscapulohumeralW Muscularatch Dystrophy Society Connecting the community of patients, families, clinicians and investigators DUX4 and FSHD: How the FSH Society Connects the Research Community By Alexandra Belayew, Ph.D., Universi- thousands of individuals have benefited onto which the HLTF protein was bound ty of Mons-Hainaut, Mons, Belgium, and from Prof. Collen’s discovery. At that in the cell. Such experiments, named Alberto Rosa, M.D., Ph.D., Institute for time, Dr. Belayew was studying a protein chromatin immunoprecipitation (ChIP), Medical Research “Mercedes y Martín named HLTF which has the characteris- are now routinely done in labs, but at Ferreyra” INIMEC-CONICET, Córdoba, tics of a “transcription factor” (a protein the time, there was no kit for it and the Argentina that controls the expression of one or amount of work involved was quite more genes). impressive.” Dr. n 2007, DUX4 emerged as a candidate Another sci- Belayew spent I gene for FSHD. DUX4 is from a family entist in Dr. an entire night of regulatory and developmental genes Belayew’s labo- on her home and stands for DoUble homeoboX gene ratory, Hao computer 4. DUX4 has been found to reside inside Ding, Ph.D., a searching Inter- of each repeat of the D4Z4 repeat array. physician from net databases When an individual has ten or fewer China, was for sequences D4Z4 repeats he or she can have FSHD. working on his similar to DUX4 research has an interesting histo- Ph.D. thesis approximately Dr. Belayew and researchers in her lab, ry going back to the mid-late 1990s and under Dr.
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