TY - JOUR AU - Böhm, Sabrina V. AU - Constantinou, Panayiotis AU - Tan, Sipin AU - Jin, Hong AU - Roberts, Roland G. PY - 2009 DA - 2009/12/04 TI - Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat JO - BMC Biology SP - 85 VL - 7 IS - 1 AB - The dystrophin glycoprotein complex is disrupted in Duchenne muscular dystrophy and many other neuromuscular diseases. The principal heterodimeric partner of dystrophin at the heart of the dystrophin glycoprotein complex in the main clinically affected tissues (skeletal muscle, heart and brain) is its distant relative, α-dystrobrevin. The α-dystrobrevin gene is subject to complex transcriptional and post-transcriptional regulation, generating a substantial range of isoforms by alternative promoter use, alternative polyadenylation and alternative splicing. The choice of isoform is understood, amongst other things, to determine the stoichiometry of syntrophins (and their ligands) in the dystrophin glycoprotein complex. SN - 1741-7007 UR - https://doi.org/10.1186/1741-7007-7-85 DO - 10.1186/1741-7007-7-85 ID - Böhm2009 ER -