Functional and Genomic Features of Human Genes Mutated in Neuropsychiatric Disorders
نویسندگان
چکیده
BACKGROUND In recent years, a large number of studies around the world have led to the identification of causal genes for hereditary types of common and rare neurological and psychiatric disorders. OBJECTIVE To explore the functional and genomic features of known human genes mutated in neuropsychiatric disorders. METHODS A systematic search was used to develop a comprehensive catalog of genes mutated in neuropsychiatric disorders (NPD). Functional enrichment and protein-protein interaction analyses were carried out. A false discovery rate approach was used for correction for multiple testing. RESULTS We found several functional categories that are enriched among NPD genes, such as gene ontologies, protein domains, tissue expression, signaling pathways and regulation by brain-expressed miRNAs and transcription factors. Sixty six of those NPD genes are known to be druggable. Several topographic parameters of protein-protein interaction networks and the degree of conservation between orthologous genes were identified as significant among NPD genes. CONCLUSION These results represent one of the first analyses of enrichment of functional categories of genes known to harbor mutations for NPD. These findings could be useful for a future creation of computational tools for prioritization of novel candidate genes for NPD.
منابع مشابه
Long non-coding RNAs and their significance in human diseases
Protein-coding genes account for only a small fraction of the human genome and most of the genomic sequences are transcriptionally silent, but recent observations indicate significant functional elements, including non-coding protein transcripts in the human genome. Long non-coding RNAs (lncRNAs) have been defined as transcripts of >200 nucleotides without protein-coding capacity that perform t...
متن کاملNeuropsychological and Neuropsychiatric Deficits Following Traumatic Brain Injury: Common Patterns and Neuropathological Mechanisms
Traumatic Brain Injury (TBI) in all degrees of injury severity mainly induces deviant cognitive, emotional and behavioral alterations that lead to their respective disorders. This brief overview strives to define the variables that determine the risk of occurrence of these disorders and to describe the common patterns of these disorders and their relevant neuropathogenetic mechanism(s). In addi...
متن کاملHematologic Features of Alpha Thalassemia Carriers
Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. The hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. The aim of this study was to compare hematologic features...
متن کاملMitochondrial DNA Mutations, Pathogenicity and Inheritance
Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...
متن کاملExpandable DNA Repeat and Human Hereditary Disorders
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
متن کامل