Abstracts

Biological sciences

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation

Article Abstract:

To address the genetic basis for an unusual pattern of skewing in a family segregating a mutation in the dystonia-deafness peptide (DDP) gene the locus responsible for the variable skewing to the proximal long arm of the X chromosome, a region with both the XIST and the DDP genes, was mapped. The female carriers in the family have incompletely penetrant and variable X inactivation patterns in peripheral blood leukocytes. It seems that the skewed X inactivation comes from selection against cells having the mutant DDP gene on the active X chromosome. Skewing, however, is apparently not as severe as that seen for many other harmful X-linked mutations. DDP is an example of an X-linked gene for which mutations cause partial cell selection and incompletely skewed X inactivation in peripheral blood leukocytes.

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Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Article Abstract:

Two nonsense mutations and one consensus splice-site mutation in the adaptor protein 1 complex (AP1S2) gene on Xp22 are identified in three families in a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR). AP1S2 is the first XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles.

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X chromosome-inactivation patterns of 1,005 phenotypically unaffected females

Article Abstract:

Patterns of X-chromosome inactivation in a population of >1000 phenotypically unaffected females are examined to evaluate the significance of skewed patterns of X -chromosome inactivation. It is demonstrated that only a very small proportion of unaffected females show significantly skewed inactivation, especially during the neonatal period.

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