Duplications at 15q11.2-q13.3 overlapping the Prader-Willi/Angelman syndrome (PWS/AS) region have been associated with developmental delay (DD), autism spectrum disorder (ASD) and schizophrenia (SZ). Due to presence of imprinted genes within the region, the parental origin of these duplications may be key to the pathogenicity. Duplications of maternal origin are associated with disease, whereas...

FMS-like tyrosine kinase-3 is a receptor tyrosine kinase expressed by immature hematopoietic cells and is important for the normal development of stem cells and the immune system. Mutations of FMS-like tyrosine kinase-3 have been detected in about 30% of patients with acute myelogenous leukemia and a small number of patients with acute lymphoblastic leukemia. The FMS-like tyrosine kinase-3 muta...

Duodenal duplications in adults are exceedingly rare and their diagnosis remains difficult as symptoms are largely nonspecific. Clinical presentations include pancreatitis, biliary obstruction, gastrointestinal bleeding from ectopic gastric mucosa, and malignancy. A case of duodenal duplication in a 59-year-old female is presented, and her treatment course is reviewed with description of combin...

The sea louse Caligus rogercresseyi is a marine ectoparasite that constitutes one of the major threats to salmon farming industry, where primary control strategy use delousing drugs through immersion treatments. emergence pharmacological resistance in this copepodid species has previously been described using transcriptome data. However, molecular mechanisms underlying chromosome rearrangements...

Gene duplications play a key role in the emergence of novel traits and in adaptation. But despite their centrality to evolutionary processes, it is still largely unknown how new gene duplicates are initially fixed within populations and later maintained in genomes. Long-standing debates on the evolution of gene duplications could be settled by determining the relative importance of genetic drif...

Most of some 33 X-ray-induced duplications recovered as Suppressors of Minute loci proved to be direct tandem duplications. When heterozygous, most duplications were crossover suppressors, and duplications of short to moderate size did not reduce the fitness of their bearers. Crossover suppression by tandem duplication may be attributed to intrastrand foldbacks of the type regularly seen in som...

T H I S paper reports the successful induction by X rays of two tandem direct duplications for the lozenge region of the X chromosome of Drosophila. Numerous tandem direct duplications (ABAB) of spontaneous origin are now known in Drosophila: Bar, STURTEVANT (1925), MULLER, PROKOFYEVA-BELGOVSKAYA and KOSSIKOV (1936) and BRIDGES (1936); Hairy wing, DEMEREC and HOOVER ( 1939) ; Dp (2: 2) Star, LE...

In this work, we propose constructions that correct duplications of multiple consecutive symbols. These errors are known as tandem duplications, where a sequence of symbols is repeated; respectively as palindromic duplications, where a sequence is repeated in reversed order. We compare the redundancies of these constructions with code size upper bounds that are obtained from sphere packing argu...