Schizophrenia risk increases 10-fold with genetic mutation - Medical News Today

The rare duplication in PAK7 increases the risks of developing schizophrenia or bipolar disorder more than 10-fold.According to the authors, the PAK7 gene family promotes growth and maintenance of brain connections in a pathway that is regulated by a previously known risk gene, called DISC1.
Both DISC1 and PAK7 interact with each other at the synapse level, the researchers say, which suggests that PAK signaling helps maintain synaptic networks - a mechanism that may play a role in development of schizophrenia and bipolar disorder.

Molecular Cell - Genome-wide Consequences of Deleting Any Single Gene

 Loss or duplication of chromosome segments can lead to further genomic changes associated with cancer. However, it is not known whether only a select subset of genes is responsible for driving further changes. To determine whether perturbation of any given gene in a genome suffices to drive subsequent genetic changes, we analyzed the yeast knockout collection for secondary mutations of functional consequence. Unlike wild-type, most gene knockout strains were found to have one additional mutant gene affecting nutrient responses and/or heat-stress-induced cell death. Moreover, independent knockouts of the same gene often evolved mutations in the same secondary gene. Genome sequencing identified acquired mutations in several human tumor suppressor homologs. Thus, mutation of any single gene may cause a genomic imbalance, with consequences sufficient to drive adaptive genetic changes. This complicates genetic analyses but is a logical consequence of losing a functional unit originally acquired under pressure during evolution.

Different Cancers, Same Mutations | The Scientist Magazine®

An astounding variety of genetic abnormalities can cause healthy cells to turn cancerous. Few of these are shared among cancers of the same tissue, and fewer still are shared among cancers of different tissues. Nevertheless, scientists searching for such common genetic needles in an array of cancer haystacks document their findings in two papers published today (September 26) inNature Genetics.

Scientists investigate inherited causes of autism

 "Autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric conditions. Yet, most genetic links to ASD found in recent years have involved de novo mutations, which are not passed from parent to child, but instead arise spontaneously. While these mutations help explain how ASD develops in a fraction of cases, they don't help us understand why autism so often runs in families."

Most extensive pictures ever of an organism's DNA mutation processes

Biologists and informaticists at Indiana University have produced one of the most extensive pictures ever of mutation processes in the DNA sequence of an organism, elucidating important new evolutionary information about the molecular nature of mutations and how fast those heritable changes occur.

Decode-led Team Uncovers Elevated De Novo Mutation Rate in Children of Older Fathers | GenomeWeb Daily News | Sequencing | GenomeWeb

Children born to older fathers tend to have more de novo mutations in their genomes than those with younger dads, according to a study by researchers at Decode Genetics, the University of Iceland, and Illumina Cambridge.