Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant diso rder for which no candidate gene has yet been identified. The gene correspo nding to one of the novel human cDNAs that we cloned on the basis of a musc le restricted expression pattern [Pietu G, Alibert O, Guichard B, et al. Ge nome Res 1996;6:492-503] was mapped in the region of the FSHD1A genetic loc us, i.e. one of the loci involved in this muscular dystrophy. The correspon ding encoded protein contains a PDZ and a LIM domain, two protein-protein i nteraction domains, and was very recently shown to bind alpha-actinin-2 and was named ALP (actinin-associated LIM protein) [Xia H, Winokur S, Kuo W, A ltherr M, Bredt D. J Cell Biol 1997,139:507-515]. We raised a specific poly clonal anti-ALP serum against an ALP recombinant polypeptide to evaluate th e size, level of expression and subcellular localization of ALP in three pa tients, clearly diagnosed with FSHD disease. Quantitative or qualitative al terations of ALP expression have not been detected in any of them, thus pro mpting us to exclude ALP as a FSHD gene candidate. (C) 1999 Elsevier Scienc e B.V. All rights reserved.