A study of short utrophin isoforms in mice deficient for full-length utrophin

Mamm Genome. 2003 Jan;14(1):47-60. doi: 10.1007/s00335-002-3044-z.

Abstract

Utrophin can functionally replace dystrophin in dystrophin-deficient muscle and may have a role in a therapeutic strategy for Duchenne muscular dystrophy. This has resulted in many investigations of the full-length muscle form of utrophin; however, the short utrophins and non-muscle forms have been relatively neglected, partly because they are difficult to analyze in the presence of the full-length form. Our study circumvents this problem by using mice deficient for the full-length form (UKOex6 mice) to study the translation and distribution of short utrophins. Four tissues were examined-kidney, testis, fetal hands/feet, and brain-and three novel short isoforms were identified, including Up120, which appears to be specific to kidney glomeruli, and Up 109, expressed in the fetal dermis. A third form, Up103, was found in testis but at extremely low levels. A cDNA for Up109 has been isolated and shown to have a unique NH2-terminal sequence. In addition, the first exons of Up109 and another short form, G-utrophin, have both been located within intron 55, 56 kb apart. Our immunological studies show that G-utrophin protein accumulates only in neural tissue, in line with its similarly restricted RNA distribution. Our study of testis expression shows, for the first time, that full-length utrophin is expressed at high levels in Leydig cells, raising the possibility that this protein is involved in testosterone secretion. We note that translation of the short utrophins, especially Up140 and Up71, is relatively inefficient and discuss the significance of this observation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Antibodies / immunology*
  • Base Sequence
  • Blotting, Western
  • Brain / immunology
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / immunology
  • Extremities / embryology
  • Extremities / physiology
  • Kidney / immunology
  • Male
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Membrane Proteins / immunology
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Organ Specificity
  • Protein Isoforms
  • Testis / cytology
  • Testis / immunology
  • Utrophin

Substances

  • Antibodies
  • Cytoskeletal Proteins
  • Membrane Proteins
  • Protein Isoforms
  • Utrn protein, mouse
  • Utrophin

Associated data

  • GENBANK/AJ315977