Mammalian X and Y Chromosomes evolved from an ordinary autosomal pair. Genetic decay of the Y led to X Chromosome inactivation (XCI) in females, but some Y-linked genes were retained during the course of sex chromosome evolution, and many X-linked genes did not become subject to XCI. We reconstructed gene-by-gene dosage sensitivities on the ancestral autosomes through phylogenetic analysis of m...

Previous studies on gene expression in aneuploids revealed numerous trans-acting dosage effects. Segmental aneuploidy of each varied chromosomal region exhibited predominantly inverse effects on several target genes. Here, dosage regulation was examined in a maize (Zea mays L.) ploidy series where the complete genomic complement is varied. Total RNA from leaf tissue of monoploid, diploid, tripl...

The gene dosage balance hypothesis states that a concentration imbalance among components of macromolecules is often deleterious. Thus this notion potentially provides a mechanistic explanation for understanding genetic dominance and gene duplicability. Accumulating evidence emerged from recent genomic data has strongly supported this hypothesis. Further efforts are needed to understand dosage ...

Ohno proposed that the expression levels of X-linked genes have been doubled to compensate the degeneration of Y-linked homologs during the evolution of mammalian sex chromosomes, but RNA sequencing in human somatic tissues showed no such upregulation for the vast majority of X-linked genes. Here we report that the X to autosome expression ratio equals ∼1 in haploid human parthenogenetic embryo...

Gene-dosage responses for a group of six wheat endosperm proteins have been investigated by using compensated nulli-tetrasomic lines of cv. Chinese Spring. Practically linear dosage responses have been observed for all the proteins. However, for two of the proteins (and probably for a third one), the net output of protein, at each dosage of its structural gene, was 30-80% higher when the chromo...

BACKGROUND Spinal muscular atrophy (SMA) is a common inherited and fatal neuromuscular disease caused by deletions and/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes SMN1 and SMN2. Because of the high incidence (at least 1 in 10,000 live births and a carrier frequency of 1 in 35 to 1 in 50) and severity of the disease, precise quantificat...

Sex chromosomes often entail gene dose differences between the sexes, which if not compensated for, lead to differences between males and females in the expression of sex-linked genes. Recent work has shown that different organisms respond to sex chromosome dose in a variety of ways, ranging from complete sex chromosome dosage compensation in some species to active compensation of only a minori...

Coping with variations in network dosage is crucial for maintaining optimal function in gene networks. We explored how network structure facilitates network-level dosage compensation. By using the yeast galactose network as a model, we combinatorially deleted one of the two copies of its four regulatory genes and found that network activity was robust to the change in network dosage. A mathemat...

Dosage compensation, the process whereby expression of sex-linked genes remains similar between sexes (despite heterogamety) and balanced with autosomal expression, was long believed to be essential. However, recent research has shown that several lineages, including birds, butterflies, monotremes and sticklebacks, lack chromosome-wide dosage compensation mechanisms and do not completely balanc...