Using deep-coverage next-generation sequencing of the X chromosome in the NHLBI TOPMed program, we identified a locus that was previously associated with lipids in primarily European ancestry datasets, which we now extend to diverse ancestries along with strong replication in two independent studies....
3c). While being heterozygous for the PDR1 mutation, this line’s high improvement in growth rate is likely due to an additional mutation in the YRR1 transcription factor, resulting in simultaneous mutations of both transcription factors, potentially increasing their activity. Although not ...
Someone who is heterozygous for a trait has two different alleles, while someone who is homozygous has two of the same alleles. Heterozygous people may not express one of their alleles if it is recessive, as its effect will be masked ...
What is heterozygous in autosomal dominant traits? What is an autosomal recessive Punnett square? Is a widow's peak X-linked or autosomal? If a heterozygous short haired male is crossed with a heterozygous female, what are the genotypes of the parents?
Germline (ge); θh∈{1/2,1}: a germline variant, where θh=1/2 reflects a heterozygous and θh=1 a homozygous variant.Somatic healthy (sh); θh∈(0,1/2): a variant that is somatic but appears in the healthy genome, reflected by subclonal, non-germline variant allele frequencies....
B, The sequences of ncx1h in the WT sibling and homozygous as well as heterozygous mutant. There is a T to C mutation, resulting in the change of leucine (L) to proline (P). C, The secondary topology of Ncx1h. D, The main functional domains of Ncx1h which contain two α-...
Finally, a lower GR was observed in the homozygous animals with seven repetitions (0.008 ± 0.019) compared to the homozygous ones with eight repetitions (0.018 ± 0.001) or to the heterozygous (0.016 ± 0.001) ewes for these two alleles for polyC (−25). The indel (−58) was also ...
These mice were crossed with transgenic mice expressing the Flp recombinase to excise the puromycin cassette (Figure 1B), and the resulting Mrpp3+/loxP mice were mated to mice expressing Cre recombinase under the control of the β-actin promoter to generate heterozygous Mrpp3 knockout mice (...
The sensitivity of the three multiplex assays was tested on 21 highly heterozygous samples diluted to 1.25 ng, 0.625 ng, 0.313 ng, 0.156 ng and 0.078 ng DNA per reaction. A closer look at the data revealed one non-amplifying locus for the variant with 1.25 ng of DNA and one case of mu...
(Figs.S3b–S3candS3h). Homozygous deletion ofSrsf1led to gut toxicity with elevated levels of intestinal cell apoptosis (Fig.S3k) so heterozygous deletion ofSrsf1was selected to phenocopy a more clinically relevant scenario where impaired SRSF1 activity might be achieved rather than complete ...