D. Korthaus et al., INTEGRATED RADIATION HYBRID MAP OF HUMAN-CHROMOSOME 2P13 - POSSIBLE INVOLVEMENT OF DYNACTIN IN NEUROMUSCULAR DISEASES, Genomics, 43(2), 1997, pp. 242-244
The genes for the human neuromuscular diseases limb-girdle muscular dy
strophy type 2B (LGMD2B) and Miyoshi myopathy are located on chromosom
e 2p13p14, and two neuromuscular mutations of the mouse have been mapp
ed to regions homologous to human chromosome 2p13 by conserved synteny
, wobbler (wr) on proximal Chr 11 and motor neuron degeneration 2 (mnd
2) on Chr 6. Neither one is a mouse homologue of LGMD2B. Recently the
gene DCTN1, coding for the large subunit of the cytoskeletal protein d
ynactin, 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 th
at more precisely define the location of nine genetic markers in the c
ritical region and the homology relationship of human chromosome 2p wi
th mouse proximal Chr 11 and Chr 6. The human dynactin gene was mapped
between markers TGFA and D2S1394, implying that the mouse dynactin ge
ne Dctn1 is located on Chr 6, distal to mnd2. Thus DCTN1/Dctn1 is a ca
ndidate for LGMD2B but not for mnd2 or wr. (C) 1997 Academic Press.