Mammalian Genome 10, 638–641 (1999). Incorporating Mouse Genome © Springer-Verlag New York Inc. 1999 Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn) Christine J. DiDonato, Thierry Brun, Louise R. Simard Centre de Recherche, Ho ˆ pital Ste-Justine, 3175 Co ˆ te Ste-Catherine, Montre ´al, Que ´bec, Canada H3T 1C5 Received: 11 November 1998 / Accepted: 14 January 1999 In humans, loss or mutation of the Survival Motor Neuron (SMN) gene, as well as our gene targeting experience at the Smn locus. gene is responsible for proximal spinal muscular atrophy (SMA), We have also analyzed the 58 region of Smn and show that it the second most common autosomal recessive disease of child- contains a functional promoter. hood after cystic fibrosis. This lethal neuropathy affects 1/10,000 The Smn locus and flanking regions were completely se- live-born children. It is characterized by degeneration of the a-mo- quenced by a directed subcloning approach that was supplemented tor neurons in the spinal cord, which causes proximal, symmetrical by PCR products amplified from 129/SvJ genomic DNA. Previ- limb and trunk muscle weakness that progresses to paralysis. Since ously characterized BAC clones, 411M1 and 227N6 (DiDonato et
Mammalian Genome – Springer Journals
Published: Mar 11, 2014
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