Sentence examples for mutations that segregate from inspiring English sources

The first is motivated by weakly deleterious mutations that segregate transiently in the population, which are known to inflate the estimate of selective constraint and cause underestimation of the number of adaptive substitutions [ 34].

However, there is increasing evidence that the ASDs can arise from rare or 'private' highly penetrant mutations that segregate in families but are less generalizable to the general population17,18,19.

We therefore investigated whether CHIP-mediated degradation of LRRK2 is affected by LRRK2 point mutations that segregate with PD or that ablate the kinase activity of LRRK2.

Mutations that segregate with PD are mainly clustered within the catalytic core, suggesting that alteration of the enzymatic functions may be correlated with pathology.

Weakly deleterious nonsynonymous mutations that segregate in the population, but that will not contribute to divergence, lead to a value of NI greater than 1.

The final frontier in rare variant analysis, the rarest of the rare, is the somatic mutations that segregate among different cells of the same individual.

Pedigrees 6, 7 and 8 all carry the same KLHL3 p.L387P mutation that segregates completely with an FHHt phenotype, raising the question whether these families have a common founder.

The genetic alterations carried by affected individuals are predicted to lead to loss-of-function mutations that would segregate in an autosomal dominant manner to subsequent generations.

This notwithstanding, the requirement for the involvement of a second mutated gene may depend upon the specific mutations that are segregating in the pedigrees.

Human mitochondrial DNA (mtDNA) has undergone a large number of mutations that have segregated during evolution.

We found that the mutations that remained segregating after several generations of exposure to sheep had very specific values for their survival advantage and trade-off.