The full-length 5218-bp sequence of the mobile genetic element Tdd-3 from Dictyostelium discoideum is described. Tdd-3 encodes two overlapping open reading frames (ORFs) flanked by non-redundant, untranslated regions. The deduced amino acid sequence of ORF2 is homologous to reverse transcriptases (RTs) encoded by the class of poly(A) retrotransposons. ORF2 also encodes a putative protein domain related to the family of apurinic/apyrimidinic (AP) endonucleases, whose retroelement-encoded homologs have recently been proposed to represent the integrase function of poly(A) retrotransposons. Comparison of several genomic Tdd-3 copies revealed that element insertion is orientation specific and occurs about 100 bp downstream of tRNA genes in the D. discoideum genome. These properties of Tdd-3 suggest that the element is a tRNA gene-associated poly(A) retroelement present in the D. discoideum genome. Analysis of several cloned cDNAs derived from Tdd-3-specific plus strand RNAs indicate that the element is transcribed and polyadenylated during the growth of D. discoideum cells.
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Hum Mol Genet
December 2024
Bioinformatics Interdepartmental Program, University of California, Los Angeles, 611 Charles E. Young Drive East, Los Angeles, CA 90095-1570, United States.
Genome wide association studies (GWAS) have been conducted over the past decades to investigate the underlying genetic origin of neuropsychiatric diseases, such as schizophrenia (SCZ). While these studies demonstrated the significance of disease-phenotype associations, there is a pressing need to fully characterize the functional relevance of disease-associated genetic variants. Functional genetic loci can affect transcriptional and post-transcriptional phenotypes that may contribute to disease pathology.
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December 2024
Department of Biochemistry, The University of Western Ontario, London, Ontario, Canada.
PLoS One
August 2024
INRAE, ASSET, 97170, Petit-Bourg, France.
Structural variants play an important role in evolutionary processes. Besides, they constitute a large source of inter individual genetic variation that might represent a major factor in the aetiology of complex, multifactorial traits. Their importance in adaptation is becoming increasingly evident in literature.
View Article and Find Full Text PDFComp Biochem Physiol Part D Genomics Proteomics
December 2024
MOE Key Laboratory of Marine Genetics and Breeding, College of Marine Life Sciences, Ocean University of China, 5 Yushan Road, Qingdao 266003, China; Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao Marine Science and Technology Center, Qingdao 266237, China.
Rising ocean temperatures due to global warming pose a significant threat to the bay scallop aquaculture industry. Understanding the mechanisms of thermotolerance in bay scallops is crucial for developing thermotolerant breeds. Our prior research identified Arg0230340.
View Article and Find Full Text PDFAnn Med Surg (Lond)
May 2024
Department of Pediatrics, Faculty of Medicine, Damascus University, Damascus, Syria.
Introduction: The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene encodes Lysophosphatidylinositol acyltranferase (LPIAT1), which is responsible for the neurodevelopment of the brain cortex. Patients with MBOAT7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (ID), poor coordination, and seizures, with or without MRI abnormalities.
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