Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
作者： Carmel Toomes , Helen M Bottomley , Richard M Jackson , Katherine V Towns , Sheila Scott
DOI: 10.1086/383202
关键词: Locus (genetics) 、 TSPAN12 、 Genetics 、 Familial exudative vitreoretinopathy 、 Wnt signaling pathway 、 LRP5 、 Genetic heterogeneity 、 Biology 、 FZD4 、 Frizzled
摘要: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR genetically heterogeneous, but its principal locus, EVR1, on chromosome 11q13-q23. The gene encoding Wnt receptor frizzled-4 (FZD4) was recently reported to be EVR1 gene, our mutation screen revealed fewer patients harboring mutations than expected. Here, we describe in a second at low-density-lipoprotein receptor–related protein 5 (LRP5), coreceptor. This finding further underlines significance signaling vascularization eye and highlights potential dangers using multiple families refine genetic intervals gene-identification studies.
core.ac.uk
utas.edu.au
elsevier.com参考文章(48)
Masaki Kato, Millan S. Patel, Regis Levasseur, Ivan Lobov, Benny H.-J. Chang, Donald A. Glass, Christine Hartmann, Lan Li, Tae-Ho Hwang, Cory F. Brayton, Richard A. Lang, Gerard Karsenty, Lawrence Chan, Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor Journal of Cell Biology. ,vol. 157, pp. 303- 314 ,(2002) , 10.1083/JCB.200201089
Yaoqin Gong, Roger B Slee, Naomi Fukai, Georges Rawadi, Sergio Roman-Roman, Anthony M Reginato, Hongwei Wang, Tim Cundy, Francis H Glorieux, Dorit Lev, Margaret Zacharin, Konrad Oexle, Jose Marcelino, Wafaa Suwairi, Shauna Heeger, George Sabatakos, Suneel Apte, William N Adkins, Jeremy Allgrove, Mine Arslan-Kirchner, Jennifer A Batch, Peter Beighton, Graeme CM Black, Richard G Boles, Laurence M Boon, Carla Borrone, Han G Brunner, Georges F Carle, Bruno Dallapiccola, Anne De Paepe, Barbara Floege, Melissa Lees Halfhide, Bryan Hall, Raoul C Hennekam, Tatsuo Hirose, Ab Jans, Harald Jüppner, Chong Ae Kim, Kim Keppler-Noreuil, Alfried Kohlschuetter, Didier LaCombe, Marie Lambert, Emmanuelle Lemyre, Tom Letteboer, Leena Peltonen, Rajkumar S Ramesar, Marta Romanengo, Hannu Somer, Elisabeth Steichen-Gersdorf, Beat Steinmann, Beth Sullivan, Andrea Superti-Furga, Walter Swoboda, Marie-José van den Boogaard, Wim Van Hul, Miikka Vikkula, Marcela Votruba, Bernhard Zabel, Teresa Garcia, Roland Baron, Bjorn R Olsen, Matthew L Warman, None, LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development Cell. ,vol. 107, pp. 513- 523 ,(2001) , 10.1016/S0092-8674(01)00571-2
Marina Frontali, Chiara Stomeo, Bruno Dallapiccola, John M. Opitz, James F. Reynolds, Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. American Journal of Medical Genetics. ,vol. 22, pp. 35- 47 ,(1985) , 10.1002/AJMG.1320220104
Carmel Toomes, Nicola J Marchbank, David A Mackey, Jamie E Craig, Ruth A Newbury-Ecob, Chris P Bennett, Colin J Vize, Shrivatsa P Desai, Graeme CM Black, Nishal Patel, Masoud Teimory, Alexander F Markham, Chris F Inglehearn, Amanda J Churchill, Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Human Molecular Genetics. ,vol. 10, pp. 1369- 1378 ,(2001) , 10.1093/HMG/10.13.1369
H Kondo, Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity British Journal of Ophthalmology. ,vol. 87, pp. 1291- 1295 ,(2003) , 10.1136/BJO.87.10.1291
Chris F Inglehearn, Richard C Trembath, Carmel Toomes, Helen M Bottomley, Geoffrey Woodruff, Louise M Downey, Sheila Scott, Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR). Molecular Vision. ,vol. 10, pp. 37- 42 ,(2004)
P Humphries, C Fuhrmann, A Gal, E Schwinger, C E van Nouhuys, Y Li, B Müller, H Laqua, The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. American Journal of Human Genetics. ,vol. 51, pp. 749- 754 ,(1992)
Marcel Wehrli, Scott T. Dougan, Kim Caldwell, Louise O'Keefe, Stephanie Schwartz, Dalit Vaizel-Ohayon, Eyal Schejter, Andrew Tomlinson, Stephen DiNardo, arrow encodes an LDL-receptor-related protein essential for Wingless signalling Nature. ,vol. 407, pp. 527- 530 ,(2000) , 10.1038/35035110
Anna Bafico, Guizhong Liu, Abraham Yaniv, Arnona Gazit, Stuart A. Aaronson, Novel mechanism of Wnt signalling inhibition mediated by Dickkopf-1 interaction with LRP6/Arrow. Nature Cell Biology. ,vol. 3, pp. 683- 686 ,(2001) , 10.1038/35083081
Bingyu Mao, Wei Wu, Yan Li, Dana Hoppe, Peter Stannek, Andrei Glinka, Christof Niehrs, LDL-receptor-related protein 6 is a receptor for Dickkopf proteins Nature. ,vol. 411, pp. 321- 325 ,(2001) , 10.1038/35077108