Data/hora: 16/06/2024 03:58:41

Provedor de dados: | 17
País: | United Kingdom
Título: | Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Abnormalities on Human Fetal Development
Autores: | Roxana  Moslehi; Caroline Signore; James Troendle; Amiran Dzutsev; James L. Mills.
Data: | 2009-08-08
Ano: | 2009
Palavras-chave: | Developmental Biology; Genetics &amp; Genomics.
Resumo: | The effects of DNA repair and transcription genes in human prenatal life have never been studied. Trichothiodystrophy (TTD) is a rare (affected frequency of 10^-6^) recessive disorder caused by mutations in genes involved in the nucleotide excision repair (NER) pathway and in transcription. Based on our clinical observations, we conducted a genetic epidemiologic study to investigate gestational outcomes associated with TTD. We compared pregnancies resulting in TTD-affected offspring (N=24) with respect to abnormalities in their antenatal and neonatal periods to pregnancies resulting in their unaffected siblings (N=18), accounting for correlation, and to population reference values. Significantly higher incidence of several severe gestational complications was noted in TTD-affected pregnancies. Gestational complications were noted in nearly all pregnancies resulting in TTD-affected offspring with _XPD_ and _TTDN1_, but not _TTD-A_, gene mutations. Abnormal placental development may explain the constellation of observed complications; therefore, we hypothesize that some TTD genes play an important role in normal placental and fetal development. We investigated this hypothesis by analyzing the expression patterns of TTD genes. Expression of _TTDA_ was strongly negatively correlated (r=-0.7,P&amp;#x3c;0.0001) with gestational age, while _XPD, XPB_ and  _TTDN1_ were consistently expressed from 14 to 40 weeks gestation. *Conclusion:* Our results indicate an important role for  _XPD, XPB_ and _TTDN1_ gene products during normal human placental and fetal development.
Tipo: | Poster

Identificador:

http://precedings.nature.com/documents/3582/version/1

oai:nature.com:10.1038/npre.2009.3582.1

http://dx.doi.org/10.1038/npre.2009.3582.1

Fonte: | Nature Precedings
Fonte: | Creative Commons Attribution 3.0 License