The human 230-kD bullous pemphigoid antigen gene (BPAG1). Exon-intron organization and identification of regulatory tissue specific elements in the promoter region.
The human 230-kD bullous pemphigoid antigen gene (BPAG1). Exon-intron organization and identification of regulatory tissue specific elements in the promoter region.
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人类 230-kD 大疱性类天疱疮抗原基因 (BPAG1)。
DOI：
10.1172/jci116655
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发表时间：
1993
期刊：
影响因子：
--
通讯作者：
Uitto,J
中科院分区：
文献类型：
--
作者：
Tamai,K;Sawamura,D;Do,HC;Tamai,Y;Li,K;Uitto,J
230-kD大疱性类天疱疮抗原（BPAG1）是一种半染色体蛋白，由位于人类染色体6p11-12位点的基因编码。我们已经阐明了整个人类BPAG1基因的外显子-内含子组织，包括大约2.6 kb的5'侧DNA。7个重叠的基因组克隆全长约20kb，包含了BPAG1全长约9kb的编码序列，由22个独立的外显子组成，大小从78 ~ 2810bp不等。DNA的5'侧翼区域，位于ATG起始密码子的上游，被发现包含几个假定的转录响应元件。最有趣的是，检测到两个可能赋予角质细胞特异性表达基因的基元。在表达内源性基因的正常人表皮角质形成细胞中，启动子/氯霉素乙酰转移酶（CAT）构建体的表达比几种不表达的细胞类型高约20倍，这表明这些元件的存在。用启动子/报告基因（CAT）构建的5'-缺失克隆进行瞬时转染，鉴定出一个含有假定的组织特异性元件KRE2的区域，该元件也赋予了该元件下游截断的启动子表达的组织特异性，然而，KRE2的突变衍生物不起作用。详细了解BPAG1基因的结构和调控将有助于进一步阐明影响皮肤基底膜区的疾病。图片
The 230-kD bullous pemphigoid antigen (BPAG1), a hemidesmosomal protein, is encoded by a gene at the human chromosomal locus 6p11-12. We have elucidated the exon-intron organization of the entire human BPAG1 gene, including approximately 2.6 kb of 5'-flanking DNA. Seven overlapping genomic clones, spanning approximately 20 kb, contained the entire approximately 9 kb coding sequence of BPAG1 and consisted of 22 separate exons, which varied from 78 to 2,810 bp in size. The 5' flanking region of DNA, upstream from the ATG initiation codon for translation, was found to contain several putative transcriptional response elements. Most interestingly, two motifs potentially conferring keratinocyte specific expression to the gene were detected. The presence of such elements was suggested by approximately 20-fold higher expression of a promoter/chloramphenicol acetyl transferase (CAT) construct in normal human epidermal keratinocytes that express the endogenous gene, as compared to several non-expressing cell types. Transient transfections with 5'-deletion clones of the promoter/reporter gene (CAT) constructs identified a region containing a putative tissue specific element, KRE2, which also conferred tissue specificity to the expression of the truncated promoter downstream from this element, however, a mutated derivative of KRE2 was not functional. Detailed knowledge of the structure and regulation of the BPAG1 gene will aid in further elucidation of diseases affecting the cutaneous basement membrane zone.Images
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大疱性类天疱疮抗原 (BPAG1)：该基因的 cDNA 克隆和定位到人类 6 号染色体的短臂。
影响因子：
4.4
作者：
Sawamura,D;Nomura,K;Sugita,Y;Mattei,MG;Chu,ML;Knowlton,R;Uitto,J
通讯作者：
Uitto,J
妊娠疱疹自身抗体可识别 180 kD 人类表皮抗原。
DOI：
10.1172/jci113554
发表时间：
1988
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Morrison,LH;Labib,RS;Zone,JJ;Diaz,LA;Anhalt,GJ
通讯作者：
Anhalt,GJ
影响因子：
10.5
作者：
LEASK, A;ROSENBERG, M;FUCHS, E
通讯作者：
FUCHS, E
影响因子：
14.9
作者：
J. Sadler;Michael S. Waterman;Temple F. Smith
通讯作者：
Temple F. Smith
KTF-1，非洲爪蟾胚胎角蛋白表达的转录激活剂。
影响因子：
4.6
作者：
A. Snape;E. Jónás;T. Sargent
通讯作者：
T. Sargent