Haley speed dec insight data science fellow insight data. Mar 11, 2016 golzio c, willer j, talkowski me, oh ec, taniguchi y, jacquemont s, et al. Kctd potassium channel tetramerization domain containing is a protein coding gene. Dozens of publications suggest that kctd proteins have. A potential contributory role for ciliary dysfunction in. Using the yeast 2hybrid method to screen a human hepatocyte cdna library with the small subunit of dna polymerase delta pold2. Here we delete kctd in mice and demonstrate reduced synaptic transmission. Genetic causes and modifiers of autism spectrum disorder.
The family of potassium channel tetramerizationdomain kctd proteins consists of 26 members with mostly unknown functions. The bcrkctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome. The function of kctd in mammalian brain, however, remains unknown. Overexpression of all 29 human transcripts of a region of the 16p11. Kctd is a major driver for the neurodevelopmental phenotypes associated with the 16p11. Among its related pathways are sweet taste signaling and neuropathic painsignaling in dorsal horn neurons. 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. But it suggests that this one gene is the major driver. Golzio c, willer j, talkowski me, oh ec, taniguchi y, jacquemont s, et al. Sep 24, 2019 kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. Our data suggest that kctd is a major driver for the neurodevelopmental phenotypes associated with the. Using genetically modified zebrafish, golzio and colleagues identified kctd within 16p11. 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. The aims of the present study were to explore the role of kctd in.
Genome engineering of isogenic human es cells to model autism disorders refugio a. Haley speed dec insight data science fellow insight. Of the many genes in this locus, kctd has been implicated as a major driver of neuroanatomical and neurodevelopmental phenotypes. Diseases associated with kctd include osteoarthritis and hepatocellular carcinoma. Genome engineering of isogenic human es cells to model. Kctd is a major driver for the neurodevelopmental phenotypes associated with the.
A potential contributory role for ciliary dysfunction in the. Kctd and tnfaip1 are also related to the nervous system diseases. Kctd is a major driver of mirrored neuroanatomical. The subcellular localization of the uncharacterized human. The function of kctd in the mammalian brain, however, remains unknown. 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. This study does not exclude the possibility that there are other genes in the human region of 16p11. A new gene family involved in neurodevelopmental and. Gene ontology go annotations related to this gene include identical protein binding and protein domain.
The function of kctd in the mammalian brain, however, remains. Research in the atsushi kamiya laboratory at johns hopkins. The immune signaling adaptor lat contributes to the. Kctd btbpoz domaincontaining adapter for cul3mediated. 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. Complete information for kctd gene protein coding, potassium.
May 16, 2012 our data suggest that kctd is a major driver for the neurodevelopmental phenotypes associated with the 16p11. May 17, 2012 kctd is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11. 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. To test directly whether the transcriptional dysregulation of cilia genes might be a driver of the pathology, we turned to zebrafish. May 16, 2012 read kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. Leveraging biobankscale rare and common variant analyses to identify asphd1 as the main driver of reproductive traits in the 16p11. Read kctd is a major driver of mirrored neuroanatomical phenotypes of the 16p11. The cd spectra of the newly expressed domains, kctd1 btb and kctd btb fig. Substratespecific adapter of a bcr btbcul3rbx1 e3 ubiquitinprotein ligase complex required for synaptic transmission pubmed. Here we delete the kctd gene in mice and demonstrate reduced. Genome engineering of isogenic human es cells to model autism.
These results suggest that kctd may recruit rhoa for modulating its turnover via the cullin. Kctd10 is critical for heart and blood vessel development of. Pdf identification of rare variants in kctd at the. The bcr kctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome pubmed. Pdf kctd is a major driver of mirrored neuroanatomical. We used this approach to demonstrate that the major driver of the 16p11. The bcrkctd e3 ubiquitin ligase complex mediates the ubiquitination of rhoa, leading to its degradation by the proteasome pubmed. Our data suggest that kctd is a major driver for the neurodevelopmental phenotypes associated with the 16p11. 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. A role for kctd dosage changes is consistent with autism in both a recently reported family with a reduced 16p11. 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. 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.
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