Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants

Mol Cell Biol. 2002 Jun;22(12):4147-57. doi: 10.1128/MCB.22.12.4147-4157.2002.

Abstract

The mouse genome contains two Sim genes, Sim1 and Sim2. They are presumed to be important for central nervous system (CNS) development because they are homologous to the Drosophila single-minded (sim) gene, mutations in which cause a complete loss of CNS midline cells. In the mammalian CNS, Sim2 and Sim1 are coexpressed in the paraventricular nucleus (PVN). While Sim1 is essential for the development of the PVN (J. L. Michaud, T. Rosenquist, N. R. May, and C.-M. Fan, Genes Dev. 12:3264-3275, 1998), we report here that Sim2 mutant has a normal PVN. Analyses of the Sim1 and Sim2 compound mutants did not reveal obvious genetic interaction between them in PVN histogenesis. However, Sim2 mutant mice die within 3 days of birth due to lung atelectasis and breathing failure. We attribute the diminished efficacy of lung inflation to the compromised structural components surrounding the pleural cavity, which include rib protrusions, abnormal intercostal muscle attachments, diaphragm hypoplasia, and pleural mesothelium tearing. Although each of these structures is minimally affected, we propose that their combined effects lead to the mechanical failure of lung inflation and death. Sim2 mutants also develop congenital scoliosis, reflected by the unequal sizes of the left and right vertebrae and ribs. The temporal and spatial expression patterns of Sim2 in these skeletal elements suggest that Sim2 regulates their growth and/or integrity.

Publication types

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

MeSH terms

  • Animals
  • Animals, Newborn
  • Basic Helix-Loop-Helix Transcription Factors
  • Central Nervous System / growth & development
  • Central Nervous System / metabolism
  • Diaphragm / abnormalities
  • Face / embryology
  • Female
  • Gene Expression Regulation, Developmental*
  • Lung / pathology
  • Male
  • Mesoderm
  • Mice
  • Mice, Mutant Strains
  • Obesity / genetics
  • Paraventricular Hypothalamic Nucleus / growth & development
  • Pulmonary Atelectasis / genetics
  • Pulmonary Atelectasis / physiopathology
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism
  • Respiration / genetics*
  • Ribs / abnormalities
  • Spine / abnormalities
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Repressor Proteins
  • SIM1 protein, human
  • Sim1 protein, mouse
  • Sim2 protein, mouse
  • Transcription Factors