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http://bura.brunel.ac.uk/handle/2438/17520
Title: | COLEC10 is mutated in 3MC patients and regulates early craniofacial development |
Authors: | Munye, MM Diaz-Font, A Ocaka, L Henriksen, ML Lees, M Brady, A Jenkins, D Morton, J Hansen, SW Bacchelli, C Beales, PL Hernandez-Hernandez, V |
Issue Date: | 16-Mar-2017 |
Publisher: | Public Library of Science |
Citation: | Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, et al. (2017) COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet 13(3): e1006679. |
Abstract: | 3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families. The protein products of COLEC11 and COLEC10, CL-K1 and CL-L1 respectively, form heteromeric complexes. We show COLEC10 is expressed in the base membrane of the palate during murine embryo development. We demonstrate how mutations in COLEC10 (c.25C>T; p.Arg9Ter, c.226delA; p.Gly77Glufs*66 and c.528C>G p.Cys176Trp) impair the expression and/or secretion of CL-L1 highlighting their pathogenicity. Together, these findings provide further evidence linking the lectin complement pathway and complement factors COLEC11 and COLEC10 to morphogenesis of craniofacial structures and 3MC etiology. |
URI: | http://bura.brunel.ac.uk/handle/2438/17520 |
DOI: | http://dx.doi.org/10.1371/journal.pgen.1006679 |
ISSN: | 1553-7404 |
Appears in Collections: | Dept of Life Sciences Research Papers |
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