Copy-number variants (CNVs) reshape gene structure, modulate gene expression, and contribute to significant phenotypic variation. Previous studies have revealed CNV patterns in natural populations of Drosophila melanogaster and suggested that selection and mutational bias shape genomic patterns of CNV. Although previous CNV studies focused on heterogeneous strains, here, we established a number...

In many organisms sexual fate is determined by a chromosome-based method which entails a difference in sex chromosome-linked gene dosage. Consequently, a gene regulatory mechanism called dosage compensation equalizes X-linked gene expression between the sexes. Dosage compensation initiates as cells transition from pluripotency to differentiation. In Caenorhabditis elegans, dosage compensation i...

Spontaneously transformed mouse cell lines heterozygous for electrophoretic markers have been studied to determine the relationship between gene dosage and phenotype. It is shown that a clone with an electrophoretic pattern for glucosephosphate isomerase of three bands in a ratio of 4A:4AB:1B contains three copies of chromosome 7, which carries the gene for this enzyme. A clone from a different...

Organisms are finely tuned systems that are resilient to perturbations but that must maintain some constants. For example, within the genome, the ratio between different gene products must be tightly constrained to ensure stoichiometric assembly of protein complexes and the like. Evolution has honed expression levels so that as long as there is the same number of chromosomes per cell, the relat...

BACKGROUND AND PURPOSE There is some controversy regarding heterozygous mutations of the gene encoding parkin (PARK2) as risk factors for Parkinson's disease (PD), and all previous studies have been performed in non-Asian populations. Dosage mutation of PARK2, rather than a point mutation or small insertion/deletion mutation, was reported to be a risk factor for familial PD; dosage mutation of ...

Genomic structural changes, such as gene Copy Number Variations (CNVs) are extremely abundant in the human genome. An enormous effort is currently ongoing to recognize and catalogue human CNVs and their associations with abnormal phenotypic outcomes. Recently, several reports related neuropsychiatric diseases (i.e. autism spectrum disorders, schizophrenia, mental retardation, behavioral problem...

Aspartic proteases are a relatively small group of enzymes which express in various nematodes including Onchocerca volvulus. An estimation of the gene copy number corresponding to the OV7A clone, which contains a cDNA insert encoding approximately two-thirds of the entire coding sequence of aspartic protease of O. volvulus, was made by slot blot analysis in a closely related species O. gibsonig...

aspartic proteases are a relatively small group of enzymes which express in various nematodes including onchocerca volvulus. an estimation of the gene copy number corresponding to the ov7a clone, which contains a cdna insert encoding approximately two-thirds of the entire coding sequence of aspartic protease of o. volvulus, was made by slot blot analysis in a closely related species o. gibsonig...

Despite the therapeutic equivalence between twice-daily and once-daily tacrolimus, patient safety after conversion is still a concern. We reviewed 218 liver transplantation (LT) patients who converted twice-daily to once-daily tacrolimus between May 2011 and January 2014. Thirty (13.8%) patients had adverse events after conversion, with a liver function test (LFT) abnormality being the most com...