TY - JOUR
T1 - Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene
T2 - Exclusion of a candidate for familial psoriasis susceptibility
AU - Semprini, Sabrina
AU - Capon, Francesca
AU - Bovolenta, Silvia
AU - Bruscia, Emanuela
AU - Pizzuti, Antonio
AU - Fabrizi, Giuseppe
AU - Schietroma, Cataldo
AU - Zambruno, Giovanna
AU - Dallapiccola, Bruno
AU - Novelli, Giuseppe
PY - 1999
Y1 - 1999
N2 - We have recently assigned a locus for familial psoriasis (PS) susceptibility to the region containing the epidermal differentiation complex gene duster on chromosome 1q21. Gene S100A7 maps within this cluster and is reported to be markedly over-expressed in the skin lesions of psoriatic patients. In order to analyse S100A7 as a candidate for PS susceptibility, we have determined its genomic structure regarding exon-intron boundaries and the transcription start site. The gene is organised in three exons and two introns, spanning 2.7 kb. The 5' flanking region contains AP1- and Sp1-binding motifs and a TATA box. We have performed functional assays by using the β-galactosidase gene as a reporter and have confirmed that this region has strong promoter activity. To search for nucleotide variation within S100A7, we have designed a set of primers to amplify each exon and the gene promoter. Polymerase chain reaction products from 15 unrelated PS patients selected from 1q-linked pedigrees and 25 normal controls have been characterised by single-strand conformation polymorphism and direct sequencing techniques. These analyses have revealed the presence of two polymorphisms in the promoter region (-559G/A and -563 A/G), neither of which shows preferential association with the disease. Our results indicate that S100A7 can be excluded as a candidate for PS susceptibility.
AB - We have recently assigned a locus for familial psoriasis (PS) susceptibility to the region containing the epidermal differentiation complex gene duster on chromosome 1q21. Gene S100A7 maps within this cluster and is reported to be markedly over-expressed in the skin lesions of psoriatic patients. In order to analyse S100A7 as a candidate for PS susceptibility, we have determined its genomic structure regarding exon-intron boundaries and the transcription start site. The gene is organised in three exons and two introns, spanning 2.7 kb. The 5' flanking region contains AP1- and Sp1-binding motifs and a TATA box. We have performed functional assays by using the β-galactosidase gene as a reporter and have confirmed that this region has strong promoter activity. To search for nucleotide variation within S100A7, we have designed a set of primers to amplify each exon and the gene promoter. Polymerase chain reaction products from 15 unrelated PS patients selected from 1q-linked pedigrees and 25 normal controls have been characterised by single-strand conformation polymorphism and direct sequencing techniques. These analyses have revealed the presence of two polymorphisms in the promoter region (-559G/A and -563 A/G), neither of which shows preferential association with the disease. Our results indicate that S100A7 can be excluded as a candidate for PS susceptibility.
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U2 - 10.1007/s004390050925
DO - 10.1007/s004390050925
M3 - Article
C2 - 10190323
AN - SCOPUS:0033017699
VL - 104
SP - 130
EP - 134
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2
ER -