Errors in chromosome segregation can cause birth defects and
embryonic lethality in humans and cause aneuploidy, the most common genetic alteration in tumors.
Errors in chromosome segregation are a major cause for birth defects and
embryonic lethality in humans, and the most common genetic alteration in human tumors is aberrant chromosome numbers, called aneuploidy.
Not exact matches
They recapitulate natural selection and evolution:
in complex gene networks, mutations or deletions of highly linked (hub) genes lead to
embryonic lethality, while mutations of weakly linked genes account for biological variability and natural selection (Oikonomou and Cluzel, 2006).
Because
embryonic lethality was also fully rescued
in XpdTTD / KO hemizygous mice, the XpdTTD allele can be considered as wt and thus dominant to each of the homozygous lethal alleles (XpdKO, Xpd † XPCS, and Xpd † XP) with respect to this particular phenotype (Table 2).
In XpdTTD / † XPCS and XpdTTD / † XP compound heterozygous mice,
embryonic lethality was fully rescued by the XpdTTD allele.
Consistent with these results, genetic inactivation of an HR gene (Fancd2) and Polq
in mice results
in embryonic lethality.
Correspondingly, endothelial - specific deletion of Tie2 using Ve - cad - Cre driver mice, pursued
in validating the Tie2fl / fl mice used
in this study, essentially phenocopied the global Tie2 KO phenotype with
embryonic lethality around E10.5 (Supplementary Fig. 13), confirming the key role of endothelial Tie2 during
embryonic development.
Indeed, global deletion of Tie2 results
in embryonic lethality around E10.5 as a result of remodelling and maturation defects of the
embryonic vasculature38.
Targeted deletion of fatty acid transport protein - 4 results
in early
embryonic lethality.