title: Genomic structure of human cystatin A.
abstract: Cystatin A is a cysteine proteinase inhibitor with a molecular mass of 11 kDa, and is located mainly in the keratohyaline granules of the stratum granulosum and the cornified envelope of the stratum corneum in the epidermis. In this study, we demonstrated the genomic structure of this proteinase inhibitor in which there were three exons of 111 bp, 102 bp and 226 bp in length, while the lengths of the 1st and 2nd intron were approximately 14 Kbp and 4 Kbp, respectively. The conserved sequence of QVVAG was encoded in the 2nd exon and was not inserted by any introns. There were binding sites for SP-1 and AP-2 in the promoter region and an AP-1 binding site in the 1st intron. The successful amplification of each exon of cystatin A may possibly contribute to the detection of the genomic abnormality of some skin disorders e.g. keratinization disorder, chronic bacterial infection or photophobia.
authors.affiliation: Department of Dermatology, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yamazaki
authors.forename: K
authors.initials: K
authors.lastname: Ishidoh
authors.forename: E
authors.initials: E
authors.lastname: Kominami
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites; D015139:Blotting, Southern; D003001:Cloning, Molecular; D017124:Conserved Sequence; D015891:Cystatins / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000378:metabolism; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D011033:Podophyllin / Q000031:analogs & derivatives / Q000378:metabolism; D011034:Podophyllotoxin / Q000031:analogs & derivatives; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D050656:Transcription Factor AP-2; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D015891:Cystatins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D050656:Transcription Factor AP-2; D014157:Transcription Factors; C003170:mitopodozide; D011033:Podophyllin; D011034:Podophyllotoxin