Latest research on FSHD: DUX4 protein a toxin?

Grant: FSHS-MB-009
Researcher: Alberto Luis Rosa, M.D., Ph.D.
Institution(1): Washington State University -- Spokane
WSU Spokane Health Science
PO Box 1495
Spokane, WA 99210-1495 USA

Institution(2): Laboratory of Neurogenetics
Institute for Medical Research
“Mercedes y Martín Ferreyra”
INIMEC-CONICET, National Research Council of
Argentina
Friuli 2434,
B Col. Velez Sarsfield,
5016 – Córdoba, Argentina

Project Title: “Role of nuclear localization signal (NLS)
and H1/H2 motifs in DUX4-mediated cell
Death."

8/1/2004 – 7/312005 Year 1 $43,750 8/1/2005 – 7/31/2006 Year 2 $14,690

Goal: To gain understanding on the molecular and cellular mechanism underlying the pathogenesis of human facioscapulohumeral
muscular dystrophy (FSHD). To study DUX4, a putative double homeobox-containing protein encoded by a 3.3 kb polymorphic tandem repeat(D4Z4), at the locus FSHD1A on the human chromosomal region 4Q35. It is hypothesized that abnormal temporal
or spatial expression of DUX4 has a toxic effect for muscle cells causing FSHD. The study will help identify the mechanism(s)by which DUX4 causes cell death.

http://www.fshsociety.org/fsh/FSHSocietyResearchFellowsGrantsApril2005.htm