Genomes and Genes
Gene Symbol: Nefm
Description: neurofilament, medium polypeptide
Alias: NF-M, NF160, NF165, Nef3, Nfm, neurofilament medium polypeptide, 160 kDa neurofilament protein, neurofilament 3, medium, neurofilament protein M, neurofilament triplet M protein, neurofilament-M
- Kuwajima T, Yoshida Y, Takegahara N, Petros T, Kumanogoh A, Jessell T, et al. Optic chiasm presentation of Semaphorin6D in the context of Plexin-A1 and Nr-CAM promotes retinal axon midline crossing. Neuron. 2012;74:676-90 pubmed publisher..These findings suggest a mechanism by which a complex of Sema6D, Nr-CAM, and Plexin-A1 at the chiasm midline alters the sign of Sema6D and signals Nr-CAM/Plexin-A1 receptors on RGCs to implement the contralateral RGC projection. ..
- Lee H, Wroblewski E, Philips G, Stair C, Conley K, Reedy M, et al. Multiple requirements for Hes 1 during early eye formation. Dev Biol. 2005;284:464-78 pubmed..Together, these studies demonstrate that Hes1, like Pax6, simultaneously regulates multiple developmental processes during optic development. ..
- Hirai S, Cui D, Miyata T, Ogawa M, Kiyonari H, Suda Y, et al. The c-Jun N-terminal kinase activator dual leucine zipper kinase regulates axon growth and neuronal migration in the developing cerebral cortex. J Neurosci. 2006;26:11992-2002 pubmed..These data suggest that DLK plays a significant role in the coordinated regulation of radial migration and axon projection by modulating JNK activity. ..
- Fu A, Ip F, Fu W, Cheung J, Wang J, Yung W, et al. Aberrant motor axon projection, acetylcholine receptor clustering, and neurotransmission in cyclin-dependent kinase 5 null mice. Proc Natl Acad Sci U S A. 2005;102:15224-9 pubmed..Taken together, our findings reveal the essential role of Cdk5 in regulating the development of motor axons and neuromuscular synapses in vivo. ..
- Chauvet S, Cohen S, Yoshida Y, Fekrane L, Livet J, Gayet O, et al. Gating of Sema3E/PlexinD1 signaling by neuropilin-1 switches axonal repulsion to attraction during brain development. Neuron. 2007;56:807-22 pubmed..Our data therefore reveal a "gating" function of neuropilins in semaphorin-plexin signaling during the assembly of forebrain neuronal circuits. ..
- Lin W, Dominguez B, Yang J, Aryal P, Brandon E, Gage F, et al. Neurotransmitter acetylcholine negatively regulates neuromuscular synapse formation by a Cdk5-dependent mechanism. Neuron. 2005;46:569-79 pubmed..Genetic elimination of Cdk5 or blocking ACh production prevents the dispersion of AChR clusters in agrin mutants. Therefore, we propose that ACh negatively regulates neuromuscular synapse formation through a Cdk5-dependent mechanism. ..
- Lieberam I, Agalliu D, Nagasawa T, Ericson J, Jessell T. A Cxcl12-CXCR4 chemokine signaling pathway defines the initial trajectory of mammalian motor axons. Neuron. 2005;47:667-79 pubmed..In its absence, these neurons adopt a dMN-like trajectory, despite preservation of their vMN transcriptional identity. Thus, the status of Cxcr4 signaling helps to determine the initial axonal trajectory of mammalian motor neurons. ..
- Garcia M, Lobsiger C, Shah S, Deerinck T, Crum J, Young D, et al. NF-M is an essential target for the myelin-directed "outside-in" signaling cascade that mediates radial axonal growth. J Cell Biol. 2003;163:1011-20 pubmed..This has revealed that the tail domain of NF-M, with seven KSP motifs, is an essential target for the myelination-dependent outside-in signaling cascade that determines axonal caliber and conduction velocity of motor axons. ..
- Wu Y, Wang G, Scott S, Capecchi M. Hoxc10 and Hoxd10 regulate mouse columnar, divisional and motor pool identity of lumbar motoneurons. Development. 2008;135:171-82 pubmed..Together, these results show that Hoxc10 and Hoxd10 play key roles in establishing lumbar motoneuron columnar, divisional and motor pool identity. ..
- Mao C, Wang S, Pan P, Klein W. Rewiring the retinal ganglion cell gene regulatory network: Neurod1 promotes retinal ganglion cell fate in the absence of Math5. Development. 2008;135:3379-88 pubmed publisher..We conclude that, although Neurod1 and Math3 have evolved specialized functions for establishing amacrine cell fate, they are nevertheless capable of alternative functions when expressed in foreign environments. ..
- Xu H, Morishima M, Wylie J, Schwartz R, Bruneau B, Lindsay E, et al. Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development. 2004;131:3217-27 pubmed..Furthermore, our data link, for the first time, the function of the secondary heart field to congenital heart disease. ..
- Morcillo J, Martinez Morales J, Trousse F, Fermin Y, Sowden J, Bovolenta P. Proper patterning of the optic fissure requires the sequential activity of BMP7 and SHH. Development. 2006;133:3179-90 pubmed..Collectively, these data indicate that BMP7 is required for retinal fissure formation and that its activity is needed, before SHH signalling, for the generation of PAX2-positive cells at the optic disc. ..
- Plump A, Erskine L, Sabatier C, Brose K, Epstein C, Goodman C, et al. Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system. Neuron. 2002;33:219-32 pubmed..Our results indicate that Slit proteins repel retinal axons in vivo and cooperate to establish a corridor through which the axons are channeled, thereby helping define the site in the ventral diencephalon where the optic chiasm forms. ..
- Liu Y, Oppenheim R, Sugiura Y, Lin W. Abnormal development of the neuromuscular junction in Nedd4-deficient mice. Dev Biol. 2009;330:153-66 pubmed publisher..Together, these results demonstrate that Nedd4 is involved in regulating the formation and function of the NMJs through non-cell autonomous mechanisms. ..
- Vitelli F, Morishima M, Taddei I, Lindsay E, Baldini A. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet. 2002;11:915-22 pubmed..We hypothesize that this is due to the lack of a guidance role from the pouch endoderm, which is missing in these mutants. ..
- Mar L, Rivkin E, Kim D, Yu J, Cordes S. A genetic screen for mutations that affect cranial nerve development in the mouse. J Neurosci. 2005;25:11787-95 pubmed
- de Melo J, Qiu X, Du G, Cristante L, Eisenstat D. Dlx1, Dlx2, Pax6, Brn3b, and Chx10 homeobox gene expression defines the retinal ganglion and inner nuclear layers of the developing and adult mouse retina. J Comp Neurol. 2003;461:187-204 pubmed
- Niederreither K, Vermot J, Le Roux I, Schuhbaur B, Chambon P, Dolle P. The regional pattern of retinoic acid synthesis by RALDH2 is essential for the development of posterior pharyngeal arches and the enteric nervous system. Development. 2003;130:2525-34 pubmed..Thus, RALDH2 plays a crucial role in producing RA required for pharyngeal development, and RA is one of the diffusible mesodermal signals that pattern the pharyngeal endoderm. ..
- Kariya S, Park G, Maeno Hikichi Y, Leykekhman O, Lutz C, Arkovitz M, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:2552-69 pubmed publisher..We suggest that SMA might best be described as a NMJ synaptopathy and that one promising means of treating it could involve maintaining function at the NMJ. ..
- de Melo J, Du G, Fonseca M, Gillespie L, Turk W, Rubenstein J, et al. Dlx1 and Dlx2 function is necessary for terminal differentiation and survival of late-born retinal ganglion cells in the developing mouse retina. Development. 2005;132:311-22 pubmed..Herein, we propose a model whereby early-born RGCs are Dlx1 and Dlx2 independent, but Dlx function is necessary for terminal differentiation of late-born RGC progenitors. ..
- Brandon E, Lin W, D Amour K, Pizzo D, Dominguez B, Sugiura Y, et al. Aberrant patterning of neuromuscular synapses in choline acetyltransferase-deficient mice. J Neurosci. 2003;23:539-49 pubmed..These results indicate that ChAT is uniquely essential for the patterning and formation of mammalian neuromuscular synapses. ..
- Kramer E, Knott L, Su F, Dessaud E, Krull C, Helmbacher F, et al. Cooperation between GDNF/Ret and ephrinA/EphA4 signals for motor-axon pathway selection in the limb. Neuron. 2006;50:35-47 pubmed..This phenotype is enhanced in mutant mice lacking Ret and EphA4. Thus, Ret and EphA4 signals cooperate to enforce the precision of the same binary choice in motor-axon guidance. ..
- Yuan A, Rao M, Sasaki T, Chen Y, Kumar A, Veeranna -, et al. Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS. J Neurosci. 2006;26:10006-19 pubmed
- Chi C, Martinez S, Wurst W, Martin G. The isthmic organizer signal FGF8 is required for cell survival in the prospective midbrain and cerebellum. Development. 2003;130:2633-44 pubmed..Our data show that Fgf8 is part of a complex gene regulatory network that is essential for cell survival in the mes/met. ..
- Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, et al. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science. 2006;312:1802-5 pubmed publisher..Mice lacking Dok-7 formed neither acetylcholine receptor clusters nor neuromuscular synapses. Thus, Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK...
- Watari N, Kameda Y, Takeichi M, Chisaka O. Hoxa3 regulates integration of glossopharyngeal nerve precursor cells. Dev Biol. 2001;240:15-31 pubmed..In summary, the Hoxa3 gene has crucial roles in ensuring the correct axon projection pattern of all three components of the IXth nerve, i.e., motor neurons and sensory neurons of the proximal and distal ganglia. ..
- Philips G, Stair C, Young Lee H, Wroblewski E, Berberoglu M, Brown N, et al. Precocious retinal neurons: Pax6 controls timing of differentiation and determination of cell type. Dev Biol. 2005;279:308-21 pubmed..Subsequently, precocious neurons adopted a generic rather than a specific retinal neuron fate. Thus, Pax6 regulates the timing of retinal neurogenesis and couples it with specific neuron differentiation programs. ..
- Inoue T, Hatayama M, Tohmonda T, Itohara S, Aruga J, Mikoshiba K. Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. Dev Biol. 2004;270:146-62 pubmed..Based on both their similar expression pattern in mouse embryos and the malformations observed in Zic5-deficient mutant mice, human ZIC5 might be involved in the deletion syndrome. ..
- Luria V, Krawchuk D, Jessell T, Laufer E, Kania A. Specification of motor axon trajectory by ephrin-B:EphB signaling: symmetrical control of axonal patterning in the developing limb. Neuron. 2008;60:1039-53 pubmed publisher..The involvement of ephrin:Eph signaling in guiding both sets of motor axons raises the possibility that other signaling systems function primarily to refine or modulate a core Eph signaling program. ..
- Weatherbee S, Anderson K, Niswander L. LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development. 2006;133:4993-5000 pubmed..The identification of Lrp4 as a crucial factor for NMJ formation may have implications for human neuromuscular diseases such as myasthenia syndromes. ..
- Barnes A, Lilley B, Pan Y, Plummer L, Powell A, Raines A, et al. LKB1 and SAD kinases define a pathway required for the polarization of cortical neurons. Cell. 2007;129:549-63 pubmed..Thus, we provide evidence in vivo and in vitro for a multikinase pathway that links extracellular signals to the intracellular machinery required for axon specification. ..
- Abu Issa R, Smyth G, Smoak I, Yamamura K, Meyers E. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development. 2002;129:4613-25 pubmed..This study defines the cardiovascular defects present in Fgf8 mutants and supports a role for Fgf8 in development of all the pharyngeal arches and in NCC survival. ..
- Banks G, Choy P, Lavidis N, Noakes P. Neuromuscular synapses mediate motor axon branching and motoneuron survival during the embryonic period of programmed cell death. Dev Biol. 2003;257:71-84 pubmed..Thus, agrin-induced synaptic specializations are required for skeletal muscle to effectively control motoneuron numbers during embryonic development. ..
- Matsumoto Y, Irie F, Inatani M, Tessier Lavigne M, Yamaguchi Y. Netrin-1/DCC signaling in commissural axon guidance requires cell-autonomous expression of heparan sulfate. J Neurosci. 2007;27:4342-50 pubmed..These results demonstrate that the expression of HS by commissural neurons is essential for these neurons to transduce netrin-1 signals, thus providing evidence for a cell-autonomous role of HS in netrin-1/DCC-mediated axon guidance. ..
- Islam S, Shinmyo Y, Okafuji T, Su Y, Naser I, Ahmed G, et al. Draxin, a repulsive guidance protein for spinal cord and forebrain commissures. Science. 2009;323:388-93 pubmed publisher..Thus, draxin is a previously unknown chemorepulsive axon guidance molecule required for the development of spinal cord and forebrain commissures. ..
- Andrieu D, Watrin F, Niinobe M, Yoshikawa K, Muscatelli F, Fernandez P. Expression of the Prader-Willi gene Necdin during mouse nervous system development correlates with neuronal differentiation and p75NTR expression. Gene Expr Patterns. 2003;3:761-5 pubmed..Furthermore, they are also consistent with the putative role of Necdin in signaling events promoted by p75NTR during mouse nervous system development. ..
- Ishii M, Han J, Yen H, Sucov H, Chai Y, Maxson R. Combined deficiencies of Msx1 and Msx2 cause impaired patterning and survival of the cranial neural crest. Development. 2005;132:4937-50 pubmed..This increase in apoptosis may contribute to the mispatterning of the cranial ganglia and the hypoplasia of the first arch. ..
- Ma L, Tessier Lavigne M. Dual branch-promoting and branch-repelling actions of Slit/Robo signaling on peripheral and central branches of developing sensory axons. J Neurosci. 2007;27:6843-51 pubmed..Together, our studies reveal that Slit/Robo signaling contributes to patterning both the peripheral and central branches of sensory neurons but via distinct positive branching and negative guidance actions, respectively. ..
- Raft S, Nowotschin S, Liao J, Morrow B. Suppression of neural fate and control of inner ear morphogenesis by Tbx1. Development. 2004;131:1801-12 pubmed..We propose that Tbx1 acts in the manner of a selector gene to control neural and sensory organ fate specification in the otocyst. ..
- Bonanomi D, Chivatakarn O, Bai G, Abdesselem H, Lettieri K, Marquardt T, et al. Ret is a multifunctional coreceptor that integrates diffusible- and contact-axon guidance signals. Cell. 2012;148:568-82 pubmed publisher..Our studies uncover a hierarchical GPI-receptor signaling network that is constructed from combinatorial components and integrated through Ret using ligand coincidence detection. ..
- Kurohara K, Komatsu K, Kurisaki T, Masuda A, Irie N, Asano M, et al. Essential roles of Meltrin beta (ADAM19) in heart development. Dev Biol. 2004;267:14-28 pubmed..These results suggest the necessity of proteolytic regulation of ErbB ligands by Meltrin beta for proper heart development. ..
- Liu Y, Padgett D, Takahashi M, Li H, Sayeed A, Teichert R, et al. Essential roles of the acetylcholine receptor gamma-subunit in neuromuscular synaptic patterning. Development. 2008;135:1957-67 pubmed publisher..These results demonstrate that the gamma-subunit is required for the formation of pre-patterned AChR clusters, which in turn play an essential role in determining the subsequent pattern of neuromuscular synaptogenesis. ..
- Rao M, Campbell J, Yuan A, Kumar A, Gotow T, Uchiyama Y, et al. The neurofilament middle molecular mass subunit carboxyl-terminal tail domains is essential for the radial growth and cytoskeletal architecture of axons but not for regulating neurofilament transport rate. J Cell Biol. 2003;163:1021-31 pubmed
- Watanabe K, Tamamaki N, Furuta T, Ackerman S, Ikenaka K, Ono K. Dorsally derived netrin 1 provides an inhibitory cue and elaborates the 'waiting period' for primary sensory axons in the developing spinal cord. Development. 2006;133:1379-87 pubmed..These results are the first direct evidence that netrin 1 in the dorsal spinal cord acts as an inhibitory cue for primary sensory axons and is a crucial signal for the formation of sensory afferent neural networks. ..
- Kim O, Ariano M, Lazzarini R, Levine M, Sibley D. Neurofilament-M interacts with the D1 dopamine receptor to regulate cell surface expression and desensitization. J Neurosci. 2002;22:5920-30 pubmed..These results suggest that NF-M interacts with the D(1) receptor in vivo and may modify its expression and regulation. ..
- Iulianella A, Sharma M, Durnin M, Vanden Heuvel G, Trainor P. Cux2 (Cutl2) integrates neural progenitor development with cell-cycle progression during spinal cord neurogenesis. Development. 2008;135:729-41 pubmed publisher..Thus our work defines novel roles for Cux2 as a transcription factor that integrates cell-cycle progression with neural progenitor development during spinal cord neurogenesis. ..
- Huettl R, Huber A. Cranial nerve fasciculation and Schwann cell migration are impaired after loss of Npn-1. Dev Biol. 2011;359:230-41 pubmed publisher..Thus, initial hypoglossal nerve assembly and fasciculation, but not later guidance decisions depend on Npn-1 expression and axon-Schwann cell interactions...
- Luria V, Laufer E. Lateral motor column axons execute a ternary trajectory choice between limb and body tissues. Neural Dev. 2007;2:13 pubmed..When making this choice, medial and lateral LMC axons exhibit different and asymmetric relative preferences for these three trajectories. These data redefine the LMC as a motor column that innervates both limb and body tissues. ..
- Haase G, Dessaud E, Garces A, de Bovis B, Birling M, Filippi P, et al. GDNF acts through PEA3 to regulate cell body positioning and muscle innervation of specific motor neuron pools. Neuron. 2002;35:893-905 pubmed..Thus, GDNF acts as a peripheral signal to induce PEA3 expression in specific motor neuron pools thereby regulating both cell body position and muscle innervation. ..
- Pagliardini S, Ren J, Wevrick R, Greer J. Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin. Am J Pathol. 2005;167:175-91 pubmed
- Huber A, Kania A, Tran T, Gu C, De Marco Garcia N, Lieberam I, et al. Distinct roles for secreted semaphorin signaling in spinal motor axon guidance. Neuron. 2005;48:949-64 pubmed..Thus, Sema3A-Npn-1 and Sema3F-Npn-2 signaling control distinct steps of motor axon growth and guidance during the formation of spinal motor connections. ..
- Bagri A, Marin O, Plump A, Mak J, Pleasure S, Rubenstein J, et al. Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain. Neuron. 2002;33:233-48 pubmed
- Mandai K, Guo T, St Hillaire C, Meabon J, Kanning K, Bothwell M, et al. LIG family receptor tyrosine kinase-associated proteins modulate growth factor signals during neural development. Neuron. 2009;63:614-27 pubmed publisher..These findings show that LIGs physically interact with RTKs and modulate their activities to control axonal extension, guidance and branching. ..
- Tissir F, Bar I, Jossin Y, De Backer O, Goffinet A. Protocadherin Celsr3 is crucial in axonal tract development. Nat Neurosci. 2005;8:451-7 pubmed..Celsr3 and Fzd3 are expressed together during brain development and may act in synergy. Thus, a genetic pathway analogous to the one that controls PCP is key in the development of the axonal blueprint. ..
- Wang Y, Zhang J, Mori S, Nathans J. Axonal growth and guidance defects in Frizzled3 knock-out mice: a comparison of diffusion tensor magnetic resonance imaging, neurofilament staining, and genetically directed cell labeling. J Neurosci. 2006;26:355-64 pubmed..This work demonstrates the usefulness of muDTI and genetically directed neuronal labeling for the analysis of nervous system defects in the mouse. ..
- Cai Z, Feng G, Zhang X. Temporal requirement of the protein tyrosine phosphatase Shp2 in establishing the neuronal fate in early retinal development. J Neurosci. 2010;30:4110-9 pubmed publisher..Together, these results demonstrate that Shp2 mediates FGF-Ras signaling to control retinal progenitor cell fate. ..
- Lee S, Walker C, Karten B, Kuny S, Tennese A, O Neill M, et al. Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth. Hum Mol Genet. 2005;14:627-37 pubmed..We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS. ..
- Parrish M, Ott T, Lance Jones C, Schuetz G, Schwaeger Nickolenko A, Monaghan A. Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality. Mol Cell Biol. 2004;24:7102-12 pubmed..These studies indicate that Sall3 is required for the development of nerves that are derived from the hindbrain and for the formation of adjacent branchial arch derivatives. ..
- Chen F, Liu Y, Sugiura Y, Allen P, Gregg R, Lin W. Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors. Nat Neurosci. 2011;14:570-7 pubmed publisher..Our findings indicate that the skeletal muscle DHPR retrogradely regulates the patterning and formation of the NMJ. ..
- Jeong J, Mao J, Tenzen T, Kottmann A, McMahon A. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev. 2004;18:937-51 pubmed..Further, our analysis of Shh-Fox gene regulatory interactions leads us to propose that Fox genes mediate the action of Shh in facial development. ..
- Lütolf S, Radtke F, Aguet M, Suter U, Taylor V. Notch1 is required for neuronal and glial differentiation in the cerebellum. Development. 2002;129:373-85 pubmed..We have also analyzed the effects of Notch1 ablation on gliogenesis in vivo. Our results show that Notch1 is required for both neuron and glia formation and modulates the onset of neurogenesis within the cerebellar neuroepithelium. ..