22q11.2 deletion syndrome (22q11.2DS) carries increased risk for both physical and psychiatric symptoms, including a high risk for schizophrenia. Understanding the genetic elements within the deletion region therefore has the potential to unlock the mysteries of both diseases. While most of the protein-coding genes in this region have been characterized, novel elements, such as non-coding RNAs and small Open Reading Frames (sORFs) remain unstudied. We have identified a novel, highly-conserved mouse sORF in a region of the mouse genome that is orthologous to a portion of the 22q11.2 deletion. This region was previously associated with age-dependent synaptic plasticity abnormalities. We refer to it as the Plasticity Associated Neural Transcript Short, or Pants. In developing and aging mouse brain, Pants expression is strongest in hippocampus, especially in areas CA3 and CA2, throughout the dorsoventral axis. The Pants peptide is expressed throughout the hippocampus, with an age-dependent increase in stratum lucidum at 16 weeks of age. This expression pattern suggests a potential role for Pants in many hippocampal behaviors, as well as a potential role in the age-dependent neurologic deficits displayed by 22q11.2DS model mice and patients.
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http://dx.doi.org/10.1016/j.gep.2018.03.004 | DOI Listing |
Genes (Basel)
December 2022
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Front Immunol
December 2021
Neuroimmunology and Neuroinflammation Group, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain.
Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances.
View Article and Find Full Text PDFFront Neurol
June 2021
Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
The paper presents a clinical case of congenital cleft palate as a manifestation of 22q11.2 deletion syndrome accompanied by other systemic disorders having direct impact on functional indicators and perioperative period during cleft surgery. Specific for 22q11.
View Article and Find Full Text PDFJ Intellect Disabil Res
December 2017
The Behavioral Neurogenetics Center, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS).
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