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171.
Rachel V Baxter Kamel Ben Othmane Julie M Rochelle Jason E Stajich Christine Hulette Susan Dew-Knight Faycal Hentati Mongi Ben Hamida S Bel Judy E Stenger John R Gilbert Margaret A Pericak-Vance Jeffery M Vance 《Nature genetics》2002,30(1):21-22
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood. 相似文献
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Hemann MT Bric A Teruya-Feldstein J Herbst A Nilsson JA Cordon-Cardo C Cleveland JL Tansey WP Lowe SW 《Nature》2005,436(7052):807-811
The c-Myc oncoprotein promotes proliferation and apoptosis, such that mutations that disable apoptotic programmes often cooperate with MYC during tumorigenesis. Here we report that two common mutant MYC alleles derived from human Burkitt's lymphoma uncouple proliferation from apoptosis and, as a result, are more effective than wild-type MYC at promoting B cell lymphomagenesis in mice. Mutant MYC proteins retain their ability to stimulate proliferation and activate p53, but are defective at promoting apoptosis due to a failure to induce the BH3-only protein Bim (a member of the B cell lymphoma 2 (Bcl2) family) and effectively inhibit Bcl2. Disruption of apoptosis through enforced expression of Bcl2, or loss of either Bim or p53 function, enables wild-type MYC to produce lymphomas as efficiently as mutant MYC. These data show how parallel apoptotic pathways act together to suppress MYC-induced transformation, and how mutant MYC proteins, by selectively disabling a p53-independent pathway, enable tumour cells to evade p53 action during lymphomagenesis. 相似文献
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In addition to the apical-basal polarity pathway operating in epithelial cells, a planar cell polarity (PCP) pathway establishes polarity within the plane of epithelial tissues and is conserved from Drosophila to mammals. In Drosophila, a 'core' group of PCP genes including frizzled (fz), flamingo/starry night, dishevelled (dsh), Van Gogh/strabismus and prickle, function to regulate wing hair, bristle and ommatidial polarity. In vertebrates, the PCP pathway regulates convergent extension movements and neural tube closure, as well as the orientation of stereociliary bundles of sensory hair cells in the inner ear. Here we show that a mutation in the mouse protein tyrosine kinase 7 (PTK7) gene, which encodes an evolutionarily conserved transmembrane protein with tyrosine kinase homology, disrupts neural tube closure and stereociliary bundle orientation, and shows genetic interactions with a mutation in the mouse Van Gogh homologue vangl2. We also show that PTK7 is dynamically localized during hair cell polarization, and that the Xenopus homologue of PTK7 is required for neural convergent extension and neural tube closure. These results identify PTK7 as a novel regulator of PCP in vertebrates. 相似文献
179.
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome 总被引:17,自引:0,他引:17
Mnatzakanian GN Lohi H Munteanu I Alfred SE Yamada T MacLeod PJ Jones JR Scherer SW Schanen NC Friez MJ Vincent JB Minassian BA 《Nature genetics》2004,36(4):339-341
Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome. 相似文献
180.
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis 总被引:27,自引:0,他引:27
Papanikolaou G Samuels ME Ludwig EH MacDonald ML Franchini PL Dubé MP Andres L MacFarlane J Sakellaropoulos N Politou M Nemeth E Thompson J Risler JK Zaborowska C Babakaiff R Radomski CC Pape TD Davidas O Christakis J Brissot P Lockitch G Ganz T Hayden MR Goldberg YP 《Nature genetics》2004,36(1):77-82