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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Alternative splicing in normal and pathological human placentas is correlated to genetic variants

Camino S M Ruano1, Clara Apicella1, Sébastien Jacques1

  • 1Université de Paris, Institut Cochin, Inserm U1016, CNRS, 24 rue du Faubourg St Jacques, 75014, Paris, France.

Human Genetics
|January 12, 2021
PubMed

Insights

Alternative splicing plays a key role in major pregnancy diseases like preeclampsia (PE) and intra-uterine growth restriction (IUGR), impacting placental function. Genetic variants influence these splicing changes, offering new insights into disease mechanisms.

Area of Science:

  • Obstetrics and Gynecology
  • Genetics
  • Molecular Biology

Background:

  • Preeclampsia (PE) and intra-uterine growth restriction (IUGR) are major obstetric diseases often caused by placental dysfunction.
  • While gene expression changes in these diseases are studied, the role of alternative splicing remains largely unexplored.

Purpose of the Study:

  • To systematically investigate the role of alternative splicing in placental diseases (PE and IUGR).
  • To identify genes and pathways affected by alternative splicing in PE and IUGR placentas.
  • To explore the genetic basis of alternative splicing variations in placental diseases.

Main Methods:

  • Comparative analysis of alternative splicing in placental tissues from PE and IUGR patients versus controls.
  • Identification of genes with significant alternative splicing changes.
  • Correlation of splicing variations with genetic variants to identify splicing Quantitative Trait Loci (sQTL).

Main Results:

  • Alternative splicing affects a significant number of genes in PE (1060) and IUGR (1409) placentas.
  • In IUGR, alternative splicing impacts pregnancy-specific genes, while in PE, it affects both pregnancy and brain-related genes.
  • Genetic variants (cis and trans) were found to influence alternative splicing, with four chromosomal regions identified as major regulators.

Conclusions:

  • Alternative splicing is a crucial feature of placental diseases, PE and IUGR.
  • Alternative splicing patterns differ between PE and IUGR, suggesting distinct molecular mechanisms.
  • Genetic variations play a significant role in regulating alternative splicing in the placenta, providing a new perspective on disease pathogenesis.

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