Golzio c1, willer j, talkowski me, oh ec, taniguchi y, jacquemont s, reymond a, sun m, sawa a, gusella jf, kamiya a, beckmann js, katsanis n. Dozens of publications suggest that kctd proteins have. A new gene family involved in neurodevelopmental and. Nov 24, 20 golzio c, willer j, talkowski me, oh ec, taniguchi y, jacquemont s, reymond a, sun m, sawa a, gusella jf, et al. Leveraging biobankscale rare and common variant analyses to identify asphd1 as the main driver of reproductive traits in the 16p11. Kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. Haley speed dec insight data science fellow insight data. Among its related pathways are sweet taste signaling and neuropathic painsignaling in dorsal horn neurons. This study does not exclude the possibility that there are other genes in the human region of 16p11. A potential contributory role for ciliary dysfunction in the. Genetic causes and modifiers of autism spectrum disorder. The bcr kctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and promoting synaptic transmission pubmed. These results suggest that kctd may recruit rhoa for modulating its turnover via the cullin.
Overexpression of all 29 human transcripts of a region of the 16p11. Diseases associated with kctd include osteoarthritis and hepatocellular carcinoma. Our data suggest that kctd is a major driver for the neurodevelopmental phenotypes associated with the 16p11. Kctd is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11. We used this approach to demonstrate that the major driver of the 16p11. Leveraging biobankscale rare and common variant analyses.
The aims of the present study were to explore the role of kctd in. Kctd btbpoz domaincontaining adapter for cul3mediated. The subcellular localization of the uncharacterized human. The minimum and the shoulder exhibited by the kctd btb domain are at slightly shorter wavelength when compared to those shown by kctd1 btb fig.
The bcr kctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome pubmed. Mar 11, 2016 golzio c, willer j, talkowski me, oh ec, taniguchi y, jacquemont s, et al. To test directly whether the transcriptional dysregulation of cilia genes might be a driver of the pathology, we turned to zebrafish. Kctd10 is critical for heart and blood vessel development. The name of the protein family is due to the sequence similarity between the conserved nterminal region of kctd proteins and the tetramerization domain in some voltagegated potassium channels. The bcrkctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome pubmed. The function of kctd in the mammalian brain, however, remains. We have shown previously that reciprocal under and overexpression of kctd induces macro and microcephaly with concomitant defects in neurogenesis and bilateral symmetry of postmitotic neurons. Here we delete kctd in mice and demonstrate reduced synaptic transmission.
This may be indicative of a less stable state for this domain. Publications oh lab of neurogenetics and precision medicine. But it suggests that this one gene is the major driver. May 16, 2012 read kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. May 16, 2012 kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11.
Haley speed dec insight data science fellow insight. Kctd and tnfaip1 are also related to the nervous system diseases. The bcrkctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome. Genome engineering of isogenic human es cells to model. Here we delete the kctd gene in mice and demonstrate reduced. Pdf identification of rare variants in kctd at the. Using genetically modified zebrafish, golzio and colleagues identified kctd within 16p11. The family of potassium channel tetramerizationdomain kctd proteins consists of 26 members with mostly unknown functions. Read kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. Genome engineering of isogenic human es cells to model autism disorders. The cd spectra of the newly expressed domains, kctd1 btb and kctd btb fig. Identification of rare variants in kctd at the schizophren. Kctd potassium channel tetramerization domain containing is a protein coding gene.
May 17, 2012 kctd is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11. Kctd10 is critical for heart and blood vessel development of. Kctd deletion reduces synaptic transmission via increased. A potential contributory role for ciliary dysfunction in. May 16, 2012 our data suggest that kctd is a major driver for the neurodevelopmental phenotypes associated with the 16p11. Complete information for kctd gene protein coding, potassium. The aims of the present study were to explore the role of kctd in the development of scz and to provide a more complete picture of the allelic architecture at this risk locus. Kctd is a major driver for the neurodevelopmental phenotypes associated with the. The bcrkctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and promoting synaptic transmission pubmed. A role for kctd dosage changes is consistent with autism in both a recently reported family with a reduced 16p11.
Research in the atsushi kamiya laboratory at johns hopkins. Golzio c, willer j, talkowski me, oh ec, taniguchi y, jacquemont s, et al. Our data suggest that kctd is a major driver for the neurodevelopmental phenotypes associated with the. Kctd is a major driver for the neurodevelopmental phenotypes associated with the 16p11. Sep 24, 2019 kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. Kctd is a major driver of mirrored neuroanatomical. The function of kctd in mammalian brain, however, remains unknown. Using the yeast 2hybrid method to screen a human hepatocyte cdna library with the small subunit of dna polymerase delta pold2. The aims of the present study were to explore the role of kctd in the development of scz and to provide a more complete picture of the allelic architecture at. Genome engineering of isogenic human es cells to model autism disorders refugio a. Gene ontology go annotations related to this gene include identical protein binding and protein domain. Pdf kctd is a major driver of mirrored neuroanatomical. Of the many genes in this locus, kctd has been implicated as a major driver of neuroanatomical and neurodevelopmental phenotypes.
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