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Gene Review:

GTF2IP1 - general transcription factor IIi,...

Homo sapiens

Pérez Jurado, L.A. et al., Bayés, M. et al.

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High impact information on GTF2IP1

In these cases, deletion breakpoints were mapped at several sites within the recombinant block B, with a cluster (>27%) occurring at a 12 kb region within the GTF2I/GTF2IP1 gene [1].
The centromeric gene is not deleted in WBS and appears to be a partially truncated expressed pseudogene with no protein product (gene name GTF2IP1) [2].
Therefore, the duplicated region containing GTF2I and GTF2IP1 respectively is located close to the deletion breakpoints and may predispose to unequal meiotic recombination between chromosome 7 homologs and/or to intrachromosomal rearrangements [2].

References

Mutational mechanisms of Williams-Beuren syndrome deletions. Bayés, M., Magano, L.F., Rivera, N., Flores, R., Pérez Jurado, L.A. Am. J. Hum. Genet. (2003) [Pubmed]
A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Pérez Jurado, L.A., Wang, Y.K., Peoples, R., Coloma, A., Cruces, J., Francke, U. Hum. Mol. Genet. (1998) [Pubmed]

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