The human loricrin gene.

Details

Serval ID
serval:BIB_62F1C4B86075
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The human loricrin gene.
Journal
Journal of Biological Chemistry
Author(s)
Yoneda K., Hohl D., McBride O.W., Wang M., Cehrs K.U., Idler W.W., Steinert P.M.
ISSN
0021-9258
Publication state
Published
Issued date
09/1992
Peer-reviewed
Oui
Volume
267
Number
25
Pages
18060-18066
Language
english
Abstract
Loricrin is the major protein component of the cornified cell envelope of terminally differentiated mammalian epidermal (stratum corneum) cells. Using a specific human cDNA clone, we have isolated and characterized the human loricrin gene. We show that it has a very simple structure of a single intron of 1188 base pairs (bp) in the 5'-untranslated region; there are no introns in coding sequences. By use of rodent-human somatic cell hybrids, followed by in situ hybridization with a biotin-labeled genomic DNA clone, the single-copy gene maps to chromosome location 1q21. Polymerase chain reaction analyses of genomic DNAs from different individuals show that human loricrin consists of two allelic size variants, due to sequence variations in its second glycine loop domain, and these variants segregate in the human population by normal Mendelian mechanisms. Furthermore, there are multiple sequence variants within these two size class alleles due to various deletions of 12 bp (4 amino acids) in the major loop of this glycine loop domain. By use of a specific loricrin antibody, we show by immunogold electron microscopy that loricrin initially appears in the granular layer of human epidermis and forms composite keratohyalin granules with profilaggrin, but localizes to the cell periphery (cell envelope) of fully differentiated stratum corneum cells.
Keywords
Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 1, Cloning, Molecular, DNA/genetics, DNA/isolation & purification, Epidermis/ultrastructure, Genomic Library, Glycine, Humans, Intermediate Filament Proteins/analysis, Membrane Proteins/analysis, Membrane Proteins/genetics, Microscopy, Immunoelectron, Molecular Sequence Data, Polymerase Chain Reaction/methods, Polymorphism, Restriction Fragment Length, Protein Conformation, RNA Caps/genetics, Restriction Mapping, Skin/ultrastructure
Pubmed
Web of science
Create date
25/01/2008 16:36
Last modification date
20/08/2019 14:19
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