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.