Disruption of Hox9,10,11 function results in cellular level lineage infidelity in the kidney

Sci Rep. 2018 Apr 20;8(1):6306. doi: 10.1038/s41598-018-24782-5.

Abstract

Hox genes are important regulators of development. The 39 mammalian Hox genes have considerable functional overlap, greatly confounding their study. In this report, we generated mice with multiple combinations of paralogous and flanking Abd-B Hox gene mutations to investigate functional redundancies in kidney development. The resulting mice developed a number of kidney abnormalities, including hypoplasia, agenesis, and severe cysts, with distinct Hox functions observed in early metanephric kidney formation and nephron progenitor maintenance. Most surprising, however, was that extensive removal of Hox shared function in these kidneys resulted in cellular level lineage infidelity. Strikingly, mutant nephron tubules consisted of intermixed cells with proximal tubule, loop of Henle, and collecting duct identities, with some single cells expressing markers associated with more than one nephron segment. These results indicate that Hox genes are required for proper lineage selection/maintenance and full repression of genes involved in cell fate restriction in the developing kidney.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cell Differentiation / genetics
  • Cell Lineage / genetics
  • Female
  • Genes, Homeobox / genetics*
  • Genes, Homeobox / physiology*
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Homeodomain Proteins / physiology
  • Kidney / metabolism*
  • Kidney Tubules / metabolism
  • Loop of Henle / metabolism
  • Male
  • Mice
  • Mice, Knockout
  • Mutation
  • Nephrons / metabolism
  • Organogenesis / genetics
  • Transcription Factors / genetics

Substances

  • Homeodomain Proteins
  • Tlx1 protein, mouse
  • Transcription Factors