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