Uncovering tissue-specific binding features from differential deep learning.

Journal: Nucleic acids research
PMID:

Abstract

Transcription factors (TFs) can bind DNA in a cooperative manner, enabling a mutual increase in occupancy. Through this type of interaction, alternative binding sites can be preferentially bound in different tissues to regulate tissue-specific expression programmes. Recently, deep learning models have become state-of-the-art in various pattern analysis tasks, including applications in the field of genomics. We therefore investigate the application of convolutional neural network (CNN) models to the discovery of sequence features determining cooperative and differential TF binding across tissues. We analyse ChIP-seq data from MEIS, TFs which are broadly expressed across mouse branchial arches, and HOXA2, which is expressed in the second and more posterior branchial arches. By developing models predictive of MEIS differential binding in all three tissues, we are able to accurately predict HOXA2 co-binding sites. We evaluate transfer-like and multitask approaches to regularizing the high-dimensional classification task with a larger regression dataset, allowing for the creation of deeper and more accurate models. We test the performance of perturbation and gradient-based attribution methods in identifying the HOXA2 sites from differential MEIS data. Our results show that deep regularized models significantly outperform shallow CNNs as well as k-mer methods in the discovery of tissue-specific sites bound in vivo.

Authors

  • Mike Phuycharoen
    Department of Computer Science, The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.
  • Peyman Zarrineh
    School of Health Sciences, The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.
  • Laure Bridoux
    School of Medical Sciences, The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.
  • Shilu Amin
    School of Medical Sciences, The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.
  • Marta Losa
    Department of Orofacial Sciences and Department of Anatomy, University of California San Francisco, 513 Parnassus Avenue, HSW 740, San Francisco, CA 94143, USA.
  • Ke Chen
    Department of Signal Processing, Tampere University of Technology, Finland.
  • Nicoletta Bobola
    School of Medical Sciences, The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.
  • Magnus Rattray
    School of Health Sciences, The University of Manchester, Oxford Rd, Manchester M13 9PL, UK.