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PMID:17035248

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Citation

Kamiya, A, Tomoda, T, Chang, J, Takaki, M, Zhan, C, Morita, M, Cascio, MB, Elashvili, S, Koizumi, H, Takanezawa, Y, Dickerson, F, Yolken, R, Arai, H and Sawa, A (2006) DISC1-NDEL1/NUDEL protein interaction, an essential component for neurite outgrowth, is modulated by genetic variations of DISC1. Hum. Mol. Genet. 15:3313-23

Abstract

Disrupted-In-Schizophrenia-1 (DISC1) is a unique susceptibility gene for major mental conditions, because of the segregation of its genetic variant with hereditary psychosis in a Scottish pedigree. Genetic association studies reproducibly suggest involvement of DISC1 in both schizophrenia and bipolar disorder in several ethnic groups. The DISC1 protein is multifunctional, and a pool of DISC1 in the dynein motor complex is required for neurite outgrowth in PC12 cells as well as proper neuronal migration and dendritic arborization in the developing cerebral cortex in vivo. Here, we show that a specific interaction between DISC1 and nuclear distribution element-like (NDEL1/NUDEL) is required for neurite outgrowth in differentiating PC12 cells. Among several components of the dynein motor complex, DISC1 and NDEL1 are selectively upregulated during neurite outgrowth upon differentiation in PC12 cells. The NDEL1 binding site of DISC1 was narrowed down to a small portion of exon 13, corresponding to amino acids 802-835 of DISC1. We demonstrate that genetic variants of DISC1, proximal to the NDEL1 binding site, affect the interaction between DISC1 and NDEL1.

Links

PubMed Online version:10.1093/hmg/ddl407

Keywords

Animals; Carrier Proteins/genetics; Carrier Proteins/metabolism; Exons/genetics; Genetic Variation/genetics; Humans; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Neurites/metabolism; Neurites/physiology; Protein Binding; RNA Splicing/genetics; Rats; Serine/genetics; Serine/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

RAT:NDEL1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q810H6

F

Seeded From UniProt

complete

RAT:NDEL1

located_in

GO:0005813: centrosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

RAT:NDEL1

involved_in

GO:0010975: regulation of neuron projection development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

RAT:NDEL1

involved_in

GO:0031175: neuron projection development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

RAT:DISC1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q78PB6

F

Seeded From UniProt

complete

RAT:DISC1

located_in

GO:0005813: centrosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

RAT:DISC1

involved_in

GO:0010975: regulation of neuron projection development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NDEL1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q9NRI5

F

Seeded From UniProt

complete

HUMAN:DISC1

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q9GZM8

F

Seeded From UniProt

complete


See also

References

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