Sentences with phrase «tm1b null alleles»

Of the Iron Age individuals, three carry at least one Duffy null allele, protecting against malaria, and two have at least one sleeping - sickness - resistance variant in the APOL1 gene.

I am the Associate Director of the BCM Intellectual and Developmental Disabilities Research Center (IDDRC), Director of the BCM IDDRC and Texas Children's Hospital (TCH) Neurobehavioral Core Facilities, and am the Academic Lead for the behavioral phenotyping component of BCM's Knock Out Mouse Project, an NIH Common Fund Research Program contributing to the International Mouse Phenotyping Consortium's overall goal to create and characterize a null allele of every protein - coding gene of the mouse.

Our data suggest that certain presumed null alleles, although unable on their own to support basal transcription, may in fact have a substantial impact on disease outcome in compound heterozygous humans, as they do in mouse models.

Red SNPs indicate discordant homozygous calls between MAGIC and BRLMM, which are indicative of the presence of «null alleles» (individuals lacking specific binding to either probe, usually because of a variant at the probe binding site).

Recently, proteins originating from presumed null alleles were biochemically characterised as inactive in basal transcription [27], providing an explanation as to why these alleles failed to rescue lethality in haploid S. pombe with a null mutation in the XPD homologue rad15 [19].

Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo - or hemizygous patients with the same causative allele.

In a first step knock - out models with conditional potential (knock - out first allele, tm1a) will be produced from which tm1b null alleles can be derived for phenotyping

Short guide RNA was targeted to the sequence corresponding to the CCHa2 peptide - coding region, resulting in the isolation of putative null alleles for CCHa2 (CCHa2CR - 1, CCHa2CR - 2, and CCHa2CR - 3)(Figs 5A and S5).

CCHa2 - RKO51 - 2 and CCHa2 - RTAL - 34 are putative null alleles, which were generated by gene targeting using homologous recombination and TALEN, respectively (see below).

The entire coding region of the progranulin gene was deleted in the null allele.

A further cross to a Cre - recombinase - expressing strain generates the null allele.

At low - density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold difference).

When combined with a Cre - recombinase - expressing strain, the neomycin cassette and Mir stem loop are removed leaving a lacZ tagged null allele (FRT - lacZ - loxP).

Not exact matches

To test the potential of a homozygous lethal «null» allele to nevertheless contribute to organismal phenotype, we combined an Xpd † XPCS allele with a viable XpdTTD allele by crossing the corresponding heterozygous animals.

Finally, our data highlight the potential of clinically relevant alleles previously designated as null, with little or no detectable expression or activity, to nonetheless contribute to phenotype.

This classification of alleles as either causative or null currently defines what we refer to as a «monoallelic» paradigm of XPD disease.

In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R - or XPDR666W - encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R - or XPDR666W - encoding alleles in addition to the presumed null XPDL461V + del716 − 730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication)(Figure 5).

If a second, different allele is present, it is considered a functional null.

Our data suggest a re-evaluation of the contribution of «null» alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals.

Some of these alleles fail to support viability in a haploid Schizosaccharomyces pombe yeast strain with a null mutation in the XPD homologue rad15 and are thus considered devoid of significant biological activity [19].

Flpe - and Cre - mediated recombination in vitro generated ES cell lines that contained a conditional or null Sema3B allele, respectively, which were established as homozygous alleles in mice.

We generated two mutant CCHa2 - R alleles, both expected to be nulls.

To test for heterozygote deficiency, as might result from the presence of null (nonamplifying) alleles or inadvertent pooling of subpopulations (Wahlund 1928), we tested 1 - tailed probabilities of departure from Hardy - Weinberg equilibrium, using the Markov chain exact test in GENEPOP.