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  • Title: Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseases.
    Author: Korthaus D, Wedemeyer N, Lengeling A, Ronsiek M, Jockusch H, Schmitt-John T.
    Journal: Genomics; 1997 Jul 15; 43(2):242-4. PubMed ID: 9244444.
    Abstract:
    The genes for the human neuromuscular diseases limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy are located on chromosome 2p13-p14, and two neuromuscular mutations of the mouse have been mapped to regions homologous to human chromosome 2p13 by conserved synteny, wobbler (wr) on proximal Chr 11 and motor neuron degeneration 2 (mnd2) on Chr 6. Neither one is a mouse homologue of LGMD2B. Recently the gene DCTN1, coding for the large subunit of the cytoskeletal protein dynactin, was shown by FISH to be located in this region and therefore should be considered a candidate for all these disease genes. Here we present mapping data based on radiation hybrid and physical mapping that more precisely define the location of nine genetic markers in the critical region and the homology relationship of human chromosome 2p with mouse proximal Chr 11 and Chr 6. The human dynactin gene was mapped between markers TGFA and D2S1394, implying that the mouse dynactin gene Dctn1 is located on Chr 6, distal to mnd2. Thus DCTN1/Dctn1 is a candidate for LGMD2B but not for mnd2 or wr.
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