Disease relevance of CNOT1

• Thirty-four fila from patients with tethered cord syndrome were immunostained with caudal neural tube developmental markers H4C4 (CD44), VIN-IS-53, AC4, FP3 and NOT1, and a panel of mature neuroglial, neural crest, epithelial and mesenchymal markers [1].

High impact information on CNOT1

• Loss of VAD1 resulted in upregulation of NOT1, a gene encoding a global repressor of transcription [2].
• NOT1 was found to act as an intermediary transcriptional repressor of laccase [2].
• Rcd-1, a protein highly conserved across eukaryotes, was initially identified as a factor essential for nitrogen starvation-invoked differentiation in fission yeast, and its Saccharomyces cerevisiae homolog, CAF40, has been identified as part of the CCR4-NOT transcription complex, where it interacts with the NOT1 protein [3].
• The cosmids isolated were then characterized, of these, 28 cosmids (12.2% of those tested) contained Not1 site(s), and 41 cosmids were localized on the eight subregions of HC21 by differential hybridization with Alu-PCR products obtained from a hybrid mapping panel [4].
• Analysis by pulsed field gels indicates that 27 of these identify a total of 18 Not1 restriction fragments, which together account for approximately 17 million base pairs, over half the long arm [5].

References