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The human loricrin gene.

K Yoneda1, D Hohl, O W McBride

  • 1Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892.

The Journal of Biological Chemistry
|September 5, 1992
PubMed
Summary
This summary is machine-generated.

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Researchers characterized the human loricrin gene, identifying its simple structure and mapping it to chromosome 1q21. Genetic analysis revealed two main allelic size variants and further sequence variations in the loricrin protein.

Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Loricrin is the primary protein in the mammalian epidermal (stratum corneum) cell envelope.
  • Understanding the loricrin gene is crucial for comprehending skin barrier formation.

Purpose of the Study:

  • To isolate and characterize the human loricrin gene.
  • To determine the gene's chromosomal location and population variants.
  • To investigate the cellular localization and assembly of loricrin.

Main Methods:

  • Human cDNA cloning and gene isolation.
  • Rodent-human somatic cell hybrids and in situ hybridization for gene mapping.
  • Polymerase chain reaction (PCR) for allelic variant analysis.
  • Immunogold electron microscopy for protein localization.

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Main Results:

  • The human loricrin gene has a simple structure with one intron in the 5'-untranslated region.
  • The gene is located at chromosome 1q21 and is a single-copy gene.
  • Two major allelic size variants and multiple smaller sequence variants exist within the human population.
  • Loricrin initially forms granules with profilaggrin in the granular layer and localizes to the cell envelope in the stratum corneum.

Conclusions:

  • The human loricrin gene structure and chromosomal location have been elucidated.
  • Population genetic studies reveal significant allelic and sequence diversity in human loricrin.
  • Loricrin's temporal and spatial expression pattern is critical for epidermal differentiation and stratum corneum formation.