TABLE 3.
Summary of Xist knockout experiments
| Study | Deletiona | Studied in: | Findings |
|---|---|---|---|
| Penny et al. (128) | 7 kb of exon 1 and 36-bp promoterb | ES cells and chimeric embryos | Differentiated ES cells: X bearing the mutant Xist remains active and X bearing the normal Xist is inactivated in 60% of cells; both Xs are active in the remaining cells |
| Chimeric embryos: X bearing the mutant Xist remains active, and X bearing the normal Xist is inactivated in the ES cell-derived cells | |||
| Marahrens et al. (98) | Exons 1–5c | Mice | Germ cells: male with the mutant Xist is able to produce viable, fertile sperm |
| Somatic tissues: X bearing the mutant Xist is not inactivated, but dosage compensated by inactivation of X bearing the normal Xist; cells with both Xs active may be eliminated during development. | |||
| Extraembryonic tissues: suggested that lethal when Xp bears the mutant Xist, possibly due to inability to inactivate Xp; viable when Xm bears the mutant Xist |
In both studies, the Xist gene is replaced with the neomycin resistance gene by homologous recombination.
An Xist deletion was created on 129-derived X chromosome in a female XX ES cell line (PGK12.1).
The deletion was created on 129-derived X chromosome in a male XY ES cell line (J1).