X chromosome duplications have been used previously to vary the dose of specific regions of the X chromosome to study dosage compensation and sex determination in Caenorhabditis elegans. We show here that duplications suppress and X-linked hypomorphic mutation and elevate the level of activity of an X-linked enzyme, although these two genes are located in a region of the X chromosome that is no...

Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic and duplication sequence overlap has hampered their characterization as well as assembly and annotation of our genome. We developed a method whereby each public sequence is analyzed at the clone level for overrepresentation within a whole-genome shotgun s...

Segmental duplications are abundant in the human genome, but their evolutionary history is not well-understood. The mystery surrounding them is due in part to their complex organization; many segmental duplications are mosaic patterns of smaller repeated segments, or duplicons. A two-step model of duplication has been proposed to explain these mosaic patterns. In this model, duplicons are copie...

In this work, we derive upper bounds on the cardinality of tandem and palindromic duplication correcting codes by deriving the generalized sphere packing bound for these error types. We first prove that an upper bound for tandem or palindromic deletions is also an upper bound for inserting the respective type of duplications. Therefore, we derive the bounds based on these special deletions as t...

OBJECTIVES To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. DESIGN AND METHODS The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne mu...

An Hfr13 Delta(proA-lac) deletion recipient, -Delta(proA-lac)-F-purE(+)-, has been utilized in a study of the origins of duplications formed during chromosome fragment integration. Among the Pro(-)Lac(+) transductants, some have duplications spanning the F locus. These transductants are, or segregate, strains with F' episomes carrying genes of the duplication. Some of the duplications include p...

duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...

IJCR: http://escipub.com/international-journal-of-case-reports/ 0001 Jarboui et al., IJCR, 2017 1:6 IJCR: http://escipub.com/international-journal-of-case-reports/ 0002 Introduction: Intestinal duplications are mostly diagnosed in children, and less than 30% of all cases are diagnosed in adults [1,2]. Duodenal duplications (DD) are extremely rare and comprise less than 5% of all intestinal dupl...

Antennapedia-class vertebrate homeobox genes have been classified with regard to their chromosomal locations and nucleotide sequence similarities within the 183-base-pair homeobox domain. The results of these comparisons support the view that in mammals and most likely the vertebrates, four clusters of homeobox genes exist that were created by duplications of an entire primordial gene cluster. ...