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STOX1 is not imprinted and is not likely to be involved in preeclampsia

Nature Genetics volume 39, pages 279–280 (2007)Cite this article

To the editor:

van Dijk et al.1 recently suggested that maternally inherited mutations in the STOX1 gene within the 10q22 locus were responsible for matrilineal preeclampsia within the Dutch population. A 444-kb minimal critical region with maximal sharing of alleles between affected sisters located within a female-specific recombination hotspot between D10S767 and D10S599 was described1,2. Expression of genes within this region were analyzed in normal and androgenetic placentas, with the assumption that downregulation in the latter would be suggestive of genomic imprinting and maternal expression. Using this screen, the authors speculated that MAWBP and STOX1 were candidates for the maternal effect, and despite the fact that it lies adjacent but outside their reported critical region, suggest that nucleotide changes found within STOX1 were causative for the preeclampsia phenotype.

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Figure 1: Examples of biallelic expression.

References

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Author notes

  1. Isabel Iglesias-Platas and David Monk: These authors contributed equally to this work.

Authors and Affiliations

  1. Neonatal Unit, Hospital Sant Joan de Déu, Barcelona, Spain

    Isabel Iglesias-Platas

  2. Institute of Child Health, University College London, London, WC1N 1EH, UK

    David Monk, Philip Stanier & Gudrun E Moore

  3. Department of Obstetrics and Gynaecology, Academic Medical Center, Amsterdam, 1100 DE, The Netherlands

    Jiska Jebbink, Maarten Buimer, Kees Boer & Joris van der Post

  4. Laboratory of Pediatric Endocrinology, Academic Medical Center, Amsterdam, 1100 DE, The Netherlands

    Jiska Jebbink, Maarten Buimer & Carrie Ris-Stalpers

  5. School of Health and Social Sciences, Middlesex University, Enfield, EN3 4SA, UK

    Frank Hills

  6. Institute of Reproductive and Developmental Biology, Imperial College London, Du Cane Road, London, W12 0NN, UK

    Sophia Apostolidou

Authors
  1. Isabel Iglesias-Platas
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  2. David Monk
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  3. Jiska Jebbink
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  4. Maarten Buimer
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  5. Kees Boer
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  6. Joris van der Post
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  7. Frank Hills
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  8. Sophia Apostolidou
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  9. Carrie Ris-Stalpers
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  10. Philip Stanier
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  11. Gudrun E Moore
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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Biallelic expression of mouse Ctnna3, Mawbp and Stox1 in E14.5 embryo and placenta samples from C57Bl/6 × Mus musculus castaneus interspecies hybrids. (PDF 158 kb)

Supplementary Table 1

Patient phenotypes. (PDF 46 kb)

Supplementary Table 2

Primer sequences used for genotyping, mutation, expression and methylation analysis. (PDF 49 kb)

Supplementary Methods (PDF 64 kb)

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Iglesias-Platas, I., Monk, D., Jebbink, J. et al. STOX1 is not imprinted and is not likely to be involved in preeclampsia. Nat Genet 39, 279–280 (2007). https://doi.org/10.1038/ng0307-279

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