Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9

Kyle W. Sloop, Aaron D. Showalter, Christopher Von Kap-Herr, Mark J. Pettenati, Simon J. Rhodes

Research output: Contribution to journalArticle

34 Scopus citations

Abstract

The Lhx3 LIM homeodomain transcription factor is critical to pituitary organogenesis and motor neuron development. We determined the genomic structure and chromosomal localization of human LHX3. The gene contains seven coding exons and six introns that span 8.7 kilobases in length. The LHX3 gene codes for two functionally distinct isoforms that differ in their amino termini but share common LIM domains and a homeodomain. The functional domains of the LHX3 proteins are encoded by distinct exons. The alternate amino termini and LIM domains lie within individual exons, and the homeodomain is coded by two exons interrupted by a small intron. Human LHX3 maps to the subtelomeric region of chromosome 9 at band 9q34.3, within a region noted for chromosomal translocation and insertion events. Characterization of the genomic organization and chromosomal localization of LHX3 will enable molecular evaluation and genetic diagnoses of pituitary diseases and central nervous system developmental disorders in humans. (C) 2000 Published by Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)237-243
Number of pages7
JournalGene
Volume245
Issue number2
DOIs
StatePublished - Mar 21 2000

Keywords

  • Development
  • Homeodomain
  • LIM
  • Pituitary
  • Spinal cord

ASJC Scopus subject areas

  • Genetics

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