SHORT COMMUNICATIONHead to Tail Organization of the Human COL6A1 and COL6A2 Genes by Fiber-FISH
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Extracellular matrix-driven congenital muscular dystrophies
2018, Matrix BiologyCitation Excerpt :At the tissue level, the microfibrillar collagen VI is distributed in the stromal interface, usually surrounding interstitial cells near the basement membrane. Three genes encode the three main chains of collagen type VI: COL6A1, COL6A2, and COL6A3 [56, 57]. All three chains contain a comparatively short triple helical (Gly-X-Y) domain flanked by globular domains on either side.
The collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy.
2011, Handbook of Clinical NeurologyCitation Excerpt :Collagen VI belongs to the nonfibrillar collagens forming a network of beaded microfibrils in the extracellular matrix (Chu et al., 1990a; Timpl and Chu, 1994). The major three α chains, α1(VI), α2(VI), and α3(VI), are encoded by three genes: COL6A1 and COL6A2 on chromosome 21q22 and COL6A3 on chromosome 2q37 (Weil et al., 1988; Heiskanen et al., 1995) (Figure 5.4). These three chains form the heterotrimeric monomer that is the basic building block of most of collagen VI.
Congenital Muscular Dystrophies and the Extracellular Matrix
2006, Seminars in Pediatric NeurologyCitation Excerpt :A clinically and physiologically separate group of CMD is caused by mutations in the genes encoding the extracellular matrix component collagen type VI and encompasses a spectrum ranging from the severe CMD type Ullrich to the milder Bethlem form.65 Collagen VI is composed of 3 alpha chains encoded by 3 genes: COL6A1 and COL6A2 gene on chromosome 21q22 or COL6A3 gene on chromosome 2q37.66,67 It undergoes a complex assembly process in which all three alpha chains are required for a heterotrimeric monomer, which in the cell undergoes higher-order assembly via a dimer state to a tetramer.
New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)
2004, Neuromuscular DisordersNew molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
2003, American Journal of Human GeneticsCitation Excerpt :It consists of three separate chains, the α1(VI), α2(VI) and α3(VI) collagen chains, encoded by the COL6A1, COL6A2, and COL6A3 genes, respectively. The α1(VI) and α2(VI) collagen chains are similar in size (140 kDa), and their genes are linked in a head-to-tail orientation on chromosome 21q22.3 (Weil et al. 1988; Heiskanen et al. 1995). The α3(VI) collagen chain is much larger (260–330 kDa) and is encoded by the gene located on chromosome 2q37 (Weil et al. 1988).