Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression

Genomics. 2004 Apr;83(4):626-35. doi: 10.1016/j.ygeno.2003.09.020.


Mutations in ELOVL4 are associated with dominant macular degeneration (adMD/STGD3). This gene is highly expressed in the retina and is conserved through evolution. Here we report the genomic organization of the mouse orthologue of ELOVL4 and its temporal and spatial expression. A significant amount of ELOVL4 mRNA expression is detected in the adult retina, brain, skin, testis, and lens. During development, expression is first noted at embryonic day 7 (E7). A significant level of the mRNA is observed both in brain and in eyes at postnatal day 1 (P1), after which levels decrease in the brain and increase in the retina until they stabilize at P30. ELOVL4 protein is evident in the ocular tissues by E10.5 and becomes restricted predominantly to the photoreceptor layer in the mature retina. These observations suggest that ELOVL4 may play an important role in embryonic development and in maintaining normal physiology of retina and brain at later stages of development.

Publication types

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

MeSH terms

  • Animals
  • Blotting, Northern
  • Brain / embryology
  • Cloning, Molecular
  • DNA Primers / chemistry
  • Evolution, Molecular
  • Exons
  • Eye / embryology
  • Eye Proteins / biosynthesis*
  • Eye Proteins / genetics*
  • Gene Expression Regulation, Developmental*
  • Genome
  • Immunohistochemistry
  • Membrane Proteins / biosynthesis*
  • Membrane Proteins / genetics*
  • Mice
  • Molecular Sequence Data
  • Photoreceptor Cells / embryology
  • Photoreceptor Cells / metabolism
  • RNA, Messenger / metabolism
  • Retina / embryology
  • Reverse Transcriptase Polymerase Chain Reaction
  • Time Factors
  • Tissue Distribution


  • DNA Primers
  • Elovl4 protein, mouse
  • Eye Proteins
  • Membrane Proteins
  • RNA, Messenger

Associated data

  • GENBANK/AJ550628
  • GENBANK/AJ550629
  • GENBANK/AJ550630
  • GENBANK/AJ550631
  • GENBANK/AJ550632
  • GENBANK/AJ550633