Sentences with phrase «mutations near a gene»

Although they have not been implicated directly in pancreatic function, genomewide association studies have linked the presence of a mutation near the genes to an impaired ability to properly manage fasting blood - glucose levels.

Not exact matches

The second was the existence in laboratory mice of a large mutation called an inversion that affects several million nucleotides near the KITLG gene.

Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte - specific regulatory regions near DDB1 / TMEM138 correlate with expression of ultraviolet response genes under selection in Eurasians.

For example, the widespread but not universal ability to digest the milk sugar lactose in adulthood (lactose tolerance) has recently been shown to arise from any of several different mutations in and near the lactase gene.

Based on the similarity in the DNA sequences located near the caspase - 12 gene, Tyler - Smith and his colleagues estimate that the nonsense mutation occurred about 500,000 years ago in Africa.

12 guide RNAs developed to find mutation «hotspots» along the dystrophin gene helped rescue cardiac function to near - normal levels in human heart muscle tissue.

The mutation isn't in a region of the gene that codes for the SMARCAD1 protein; instead it's near a key splicing site that prevents SMARCAD1 from being made correctly, the researchers report today in The American Journal of Human Genetics.

Although the teams took very different approaches to solve the mystery of how those limbs vanished, both came up with similar results: Mutations in DNA located near a gene key to limb formation keep that gene from ever turning on, they report today.

Vogelstein also argued that the new research about random mutations should offer comfort to people who develop cancer despite having «near - perfect lifestyles,» as well as to parents who are worried that they somehow «gave» their children cancer, either by passing on a harmful gene or inadvertently exposing them to an environmental toxin.

But the mutations the team discovered in promoters were not near these or other known pancreatic cancer genes.

While the promoter mutations were not near known pancreatic cancer genes, the team discovered that they affected some of the same biological pathways inside cells.

By performing a meta - analysis of rare coding variants in whole - exome sequences from 4,133 schizophrenia cases and 9,274 controls, de novo mutations in 1,077 family trios, and copy number variants from 6,882 cases and 11,255 controls, we show that individuals with schizophrenia carry a significant burden of rare, damaging variants in 3,488 genes previously identified as having a near - complete depletion of loss - of - function variants.