Blood types A and B are codominant. If both A and B alleles are inherited, the blood type is AB. A and B are both dominant to O. So, a person must inherit two O alleles to express type O blood. What type of inheritance is blood type an example of? Blood type is an example of...
This suggested that these variants, including the p.Tyr1499Asp in the catalytic SET domain, behave as loss-of-function (LoF) alleles. Previous studies demonstrated a role for SETD1A in cell cycle control and differentiation. However, individuals with SETD1A variants do not show major structural...
Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature1. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium2 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome At...
Human genes are believed to be imprinted by epigenetic mechanisms that allow expression from only one of the two paternal alleles. These parental imprints undergo a cycle during the life of an organism that allows their reprogramming at each generation. The imprinted marks are inherited from the ...
they utilized the CRISPR-Cas9 system to modify the BCL11A erythroid-specific enhancer in CD34 + hematopoietic stem and progenitor cells derived from healthy donors. Remarkably, this editing approach successfully altered about 80% of the alleles at this genetic locus without any unintended undesirab...
Epigenetic states of metastable epialleles in mammals are mitotically inherited after establishment in early development, therefore shared across tissues, and can cause expression variability within isogenic individuals [45]. A study in humans looking for systematic inter-individual variation in DNA methyla...
By looking at known P/LP variants with AF > 1% in the Qatari subpopulations and with AF < 1% in global datasets, 59 variants were identified as potential founder alleles including 23 that are either absent or have extremely low frequency in public databases (Additional file 1: Table S5; Fig...
The base edits produced by ABE are faithfully inherited from T0 parental plants to T1 progenies From the data of the target deep sequencing and whole-genome resequencing of T0 plants, we can see that GhABE7.10n can work efficiently for the base editing in cotton. To test whether the A-to-...
Parent-of-origin effects (POE) exist when there is differential expression of alleles inherited from the two parents. A genome-wide scan for POE on DNA methylation at 639,238 CpGs in 5,101 individuals identifies 733 independent methylation CpGs potential
An interval of DNA wherein a set of alleles is inherited as a group because of linkage disequilibrium. Linkage disequilibrium The non-random association of alleles on the same DNA strand. Expression quantitative trait loci (eQTLs). Sequence variants that are associated with alterations in mRNA leve...