cis-Regulatory remodeling of the SCL locus during vertebrate evolution

Mol Cell Biol. 2010 Dec;30(24):5741-51. doi: 10.1128/MCB.00870-10. Epub 2010 Oct 18.

Abstract

Development progresses through a sequence of cellular identities which are determined by the activities of networks of transcription factor genes. Alterations in cis-regulatory elements of these genes play a major role in evolutionary change, but little is known about the mechanisms responsible for maintaining conserved patterns of gene expression. We have studied the evolution of cis-regulatory mechanisms controlling the SCL gene, which encodes a key transcriptional regulator of blood, vasculature, and brain development and exhibits conserved function and pattern of expression throughout vertebrate evolution. SCL cis-regulatory elements are conserved between frog and chicken but accrued alterations at an accelerated rate between 310 and 200 million years ago, with subsequent fixation of a new cis-regulatory pattern at the beginning of the mammalian radiation. As a consequence, orthologous elements shared by mammals and lower vertebrates exhibit functional differences and binding site turnover between widely separated cis-regulatory modules. However, the net effect of these alterations is constancy of overall regulatory inputs and of expression pattern. Our data demonstrate remarkable cis-regulatory remodelling across the SCL locus and indicate that stable patterns of expression can mask extensive regulatory change. These insights illuminate our understanding of vertebrate evolution.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Biological Evolution*
  • Chickens
  • Conserved Sequence / genetics
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Embryo, Mammalian / anatomy & histology
  • Embryo, Mammalian / physiology
  • Embryo, Nonmammalian / anatomy & histology
  • Embryo, Nonmammalian / physiology
  • Gene Expression Regulation, Developmental*
  • Genes, Reporter
  • Hematopoiesis / genetics
  • Humans
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins / metabolism
  • Regulatory Sequences, Nucleic Acid*
  • Sequence Alignment
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • Tissue Distribution
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Vertebrates / genetics*
  • Xenopus Proteins / genetics*
  • Xenopus Proteins / metabolism

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • T-Cell Acute Lymphocytic Leukemia Protein 1
  • TAL1 protein, Xenopus
  • Tal1 protein, mouse
  • Transcription Factors
  • Xenopus Proteins
  • TAL1 protein, human