PubMed:23178126 JSONTXT

{"project":"Glycosmos15-CL","denotations":[{"id":"T1","span":{"begin":59,"end":75},"obj":"Cell"},{"id":"T2","span":{"begin":66,"end":75},"obj":"Cell"},{"id":"T3","span":{"begin":716,"end":724},"obj":"Cell"},{"id":"T4","span":{"begin":1148,"end":1156},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0000047"},{"id":"A2","pred":"cl_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/CL:0000034"},{"id":"A3","pred":"cl_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/CL:0000540"},{"id":"A4","pred":"cl_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/CL:0000540"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"relna","denotations":[{"id":"T1","span":{"begin":38,"end":42},"obj":"DNA"},{"id":"T2","span":{"begin":43,"end":47},"obj":"DNA"},{"id":"T3","span":{"begin":378,"end":384},"obj":"Protein"},{"id":"T4","span":{"begin":385,"end":390},"obj":"Protein"},{"id":"T5","span":{"begin":477,"end":483},"obj":"Protein"},{"id":"T6","span":{"begin":642,"end":648},"obj":"Protein"},{"id":"T7","span":{"begin":742,"end":748},"obj":"Protein"},{"id":"T8","span":{"begin":846,"end":850},"obj":"DNA"},{"id":"T9","span":{"begin":851,"end":855},"obj":"DNA"},{"id":"T10","span":{"begin":986,"end":992},"obj":"Protein"},{"id":"T11","span":{"begin":1041,"end":1045},"obj":"DNA"},{"id":"T12","span":{"begin":1046,"end":1050},"obj":"DNA"}],"relations":[{"id":"R0","pred":"linked","subj":"T7","obj":"T8"},{"id":"R1","pred":"linked","subj":"T7","obj":"T9"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":111,"end":123},"obj":"HP_0000252"},{"id":"T2","span":{"begin":129,"end":156},"obj":"HP_0000707"},{"id":"T3","span":{"begin":220,"end":232},"obj":"HP_0000252"},{"id":"T4","span":{"begin":423,"end":435},"obj":"HP_0000252"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":0,"end":12},"obj":"Disease"},{"id":"T2","span":{"begin":111,"end":123},"obj":"Disease"},{"id":"T3","span":{"begin":220,"end":232},"obj":"Disease"},{"id":"T4","span":{"begin":423,"end":435},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0001149"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0001149"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0001149"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0001149"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":489,"end":493},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":618,"end":623},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":1125,"end":1130},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"10088"},{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"},{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"Anatomy-MAT","denotations":[{"id":"T1","span":{"begin":66,"end":75},"obj":"Body_part"},{"id":"T2","span":{"begin":187,"end":202},"obj":"Body_part"},{"id":"T3","span":{"begin":769,"end":779},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000185"},{"id":"A2","pred":"mat_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MAT_0000108"},{"id":"A3","pred":"mat_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MAT_0000373"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":66,"end":75},"obj":"Body_part"},{"id":"T2","span":{"begin":187,"end":202},"obj":"Body_part"},{"id":"T3","span":{"begin":362,"end":368},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL_0000034"},{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0000956"},{"id":"A3","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0002389"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}

{"project":"GlyCosmos15-HP","denotations":[{"id":"T1","span":{"begin":0,"end":12},"obj":"Phenotype"},{"id":"T2","span":{"begin":111,"end":123},"obj":"Phenotype"},{"id":"T3","span":{"begin":220,"end":232},"obj":"Phenotype"},{"id":"T4","span":{"begin":423,"end":435},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0000252"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0000252"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0000252"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0000252"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.\nMicrocephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation. Here, we identify and characterize a nuclear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic size, and neonatal death. Znf335 null mice are embryonically lethal, and conditional knockout leads to severely reduced cortical size. RNA-interference and postmortem human studies show that ZNF335 is essential for neural progenitor self-renewal, neurogenesis, and neuronal differentiation. ZNF335 is a component of a vertebrate-specific, trithorax H3K4-methylation complex, directly regulating REST/NRSF, a master regulator of neural gene expression and cell fate, as well as other essential neural-specific genes. Our results reveal ZNF335 as an essential link between H3K4 complexes and REST/NRSF and provide the first direct genetic evidence that this pathway regulates human neurogenesis and neuronal differentiation."}