Variant phasing and haplotypic expression from long-read sequencing in maize

Commun Biol. 2020 Feb 18;3(1):78. doi: 10.1038/s42003-020-0805-8.

Abstract

Haplotype phasing maize genetic variants is important for genome interpretation, population genetic analysis and functional analysis of allelic activity. We performed an isoform-level phasing study using two maize inbred lines and their reciprocal crosses, based on single-molecule, full-length cDNA sequencing. To phase and analyze transcripts between hybrids and parents, we developed IsoPhase. Using this tool, we validated the majority of SNPs called against matching short-read data from embryo, endosperm and root tissues, and identified allele-specific, gene-level and isoform-level differential expression between the inbred parental lines and hybrid offspring. After phasing 6907 genes in the reciprocal hybrids, we annotated the SNPs and identified large-effect genes. In addition, we identified parent-of-origin isoforms, distinct novel isoforms in maize parent and hybrid lines, and imprinted genes from different tissues. Finally, we characterized variation in cis- and trans-regulatory effects. Our study provides measures of haplotypic expression that could increase accuracy in studies of allelic expression.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Alleles
  • Endosperm / genetics
  • Gene Expression Profiling / methods
  • Gene Expression Regulation, Plant
  • Genes, Plant
  • Genome, Plant
  • Haplotypes
  • Mutation
  • Plant Proteins / genetics
  • Plants, Genetically Modified
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics
  • Sequence Analysis, RNA / methods*
  • Zea mays / genetics*
  • Zea mays / physiology

Substances

  • Plant Proteins
  • RNA, Messenger