Targeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formation

Journal of Cell Biology

Volumn 154, Issue 1, 2001, Pages 187-196

  Moré, Margret I ^a   Kirsch, Frank P ^a   Rathjen, Fritz G ^a  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

Axon outgrowth; Cataract; Cell adhesion; Ig superfamily; L1 subgroup

Indexed keywords

ANKYRIN B; CELL ADHESION MOLECULE; CELL PROTEIN; CONNEXIN 50; GAP JUNCTION PROTEIN; NGCAM RELATED CELL ADHESION MOLECULE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOACCUMULATION; CATARACT; CATARACTOGENESIS; CELL CONTACT; CONTROLLED STUDY; CYTOSKELETON; DEVELOPMENTAL STAGE; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GAP JUNCTION; HISTOPATHOLOGY; LENS FIBER; MALE; MOUSE; NERVE FIBER GROWTH; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROPRIOCEPTION; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION;

ACTINS; AGE FACTORS; ANIMALS; ANKYRINS; AXONS; CATARACT; CELL ADHESION; CELL ADHESION MOLECULES; CONNEXINS; EYE PROTEINS; FEMALE; GAP JUNCTIONS; GENE TARGETING; GENOTYPE; HOMOZYGOTE; IMMUNOBLOTTING; LENS, CRYSTALLINE; MALE; MICE; MICE, KNOCKOUT; MODELS, BIOLOGICAL; MODELS, GENETIC; NEURONS; RATS; SPINAL CORD; TISSUE DISTRIBUTION;

ANIMALIA;

EID: 0035833250     PISSN: 00219525     EISSN: None     Source Type: Journal    
DOI: 10.1083/jcb.200104038     Document Type: Article

References (43)

1. Molecular architecture of the lens fiber cell basal membrane complex
2. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
3. Cell adhesion molecules 1: Immunoglobulin superfamily
4. Neural cell recognition molecule L1: From cell biology to human hereditary brain malformations
5. Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes
6. Errors in corticospinal axon guidance in mice lacking the neural cell adhesion molecule L1
7. Disruption of the mouse L1 gene leads to malformations of the neuvous system
8. Ankyrin binding activity, shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules
9. Pathological missense mutations ofneural cell adhesion molecule L1 affect hemophilic and heterophilic binding activities
10. Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice
11. Ankyrin of the ocular lens
12. The complete sequence of the human locus for NrCAM (NgCAM-related cell adhesion molecule) reveals a novel alternative exon in chick and man and conserved genomic organisation for the L1 subfamily
13. A direct interaction of axonin-1 with NgCAM-related cell adhesion molecule (NrCAM) results in guidance, but not growth ofcommissural axone
14. Lens biology: Development and human cataractogenesis
15. The genetics of childhood cataract
16. Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice
17. Cataract mutations and lens development
18. Structure of a new nervous system glycoprotein, Nr-CAM, and its relationship to subgroups of neural cell adhesion molecules
19. Progress on the structure and function of aquaporin 1
20. Structural and functional evolution of the L1 family: Are four adhesion molecules better than one?
21. Receptor clustering drives polarized assembly of ankyrin
22. Bravo/Nr-CAM is closely related to the cell adhesion molecules L1 and NgCAM and has a similar heterodimer structure
23. Morphogenesis of the node of Ranvier: Co-clusters of ankyrin and ankyrin-binding integral proteins define early developmental intermediates
24. Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31
25. Connexin46 mutations in autosomal dominant congenital cataract
26. Homophilic and heterophilic binding activities of Nr-CAM, a nervous system cell adhesion molecule
27. Induction of axonal growth by heterophilic interactions between the cell surface recognition proteins F11 and NrCAM/Bravo
28. Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression
29. Distinct subpopulations of sensory afferents require F11 or axonin-1 for growth to their target layers within the spinal cord of the chick
30. Induction of neurite outgrowth through contactin and NrCAM by extracellular regions of glial receptor tyrosine phosphatase β
31. B in premyelinated axons
32. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
33. Mutations in the founder of the MIP gene family underlie cataract development in the mouse
34. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
35. Axonin-1, Nr-CAM, and Ng-CAM play different roles in the in vivo guidance of chick commissural neurons
36. Binding between the neural cell adhesion molecules axonin-1 and nr-cam/bravo is involved in neuron-glia interaction
37. Isolation and chromosomal localization of a novel nonerythroid ankyrin gene
38. The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation
39. Neurofascin induces neurites by heterophilic interactions with axonal NrCAM while NrCAM requires F11 on the axonal surface to extend neurites
40. Dissection of complex molecular interactions of neurofascin with Axonin-1, F11, and Tenascin-R, which promote attachment and neurite formation of tectal cells
41. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
42. Mutations in the cell adhesion molecule L1 cause mental retardation
43. Functional interactions of the immunoglobulin superfamily member F11 are differentially regulated by the extracellular matrix proteins Tenascin-R and Tenascin-C