| 1 | Genomics 2001 May 74: 36-44 |
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| PMID | 11374900 |
| Title | Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia. |
| Abstract | Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of Drosophila kinesin-73. Several alternative transcripts are differentially expressed in human tissues, probably reflecting differences in cargo binding and transport of corresponding proteins. During early mouse development, its homologue (KIF13A) is expressed essentially in the central nervous system. In Caenorhabditis elegans, the unc-104 gene is involved in axonal anterograde transport, and null mutants present several behavioral defects. The putative function and genomic localization of KIF13A make this gene an interesting candidate for genetic predisposition to schizophrenia. We provide sequences of 20 single-nucleotide polymorphisms localized within KIF13A to test for association studies between this gene and schizophrenia. |
| SCZ Keywords | schizophrenia |
| 2 | Curr. Biol. 2016 Jan 26: 1-13 |
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| PMID | 26725201 |
| Title | BLOC-1 Brings Together the Actin and Microtubule Cytoskeletons to Generate Recycling Endosomes. |
| Abstract | Recycling endosomes consist of a tubular network that emerges from vacuolar sorting endosomes and diverts cargoes toward the cell surface, the Golgi, or lysosome-related organelles. How recycling tubules are formed remains unknown. We show that recycling endosome biogenesis requires the protein complex BLOC-1. Mutations in BLOC-1 subunits underlie an inherited disorder characterized by albinism, the Hermansky-Pudlak Syndrome, and are associated with schizophrenia risk. We show here that BLOC-1 coordinates the kinesin KIF13A-dependent pulling of endosomal tubules along microtubules to the Annexin A2/actin-dependent stabilization and detachment of recycling tubules. These components cooperate to extend, stabilize and form tubular endosomal carriers that function in cargo recycling and in the biogenesis of pigment granules in melanocytic cells. By shaping recycling endosomal tubules, our data reveal that dysfunction of the BLOC-1-KIF13A-Annexin A2 molecular network underlies the pathophysiology of neurological and pigmentary disorders. |
| SCZ Keywords | schizophrenia |