Sentences with phrase «presumed null alleles»

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].

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.

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.

Not exact matches

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).