Structure of the Human Laminin γ2 Chain Gene (LAMC2): Alternative Splicing with Different Tissue Distribution of Two Transcripts

详细信息    查看全文

• 作者：Airenne ; Tomi ; Haakana ; Heli ; Sainio ; Kirsi ; Kallunki ; Tuula ; Kallunki ; Pekka ; Sariola ; Hannu ; et. al.
• 刊名：Genomics
• 出版年：1996
• 出版时间：February 15, 1996
• 年：1996
• 卷：32
• 期：1
• 页码：54-64
• 全文大小：633 K

文摘

We have determined the structure of the human laminin γ2 chain gene (LAMC2), which is mutated in some patients with junctional epidermolysis bullosa. Eight λ phage clones isolated from a genomic library and three subgenomic λ phage clones made from a plasmid artificial chromosome clone spanned 75 kb, including the 55-kb gene. The LAMC2 gene contains 23 exons and is structurally highly homologous with the 28-exon LAMC1 gene (Kallunkiet al.,1991,J. Biol. Chem.266: 221–228), with 16 exons having identical sizes in the two genes. The gene analysis demonstrated that two previously described different size γ2 chain cDNAs (Kallunkiet al.,1992,J. Cell Biol.119: 679–693) are the result of alternative splicing. The longer γ2 chain is formed by using the coding sequence of the last exon 23, while the shorter γ2* chain is formed by using only 22 exons, together with part of the 5′ end of intron 22. The two mRNAs were shown to have different expression patterns in 17-week-old human embryonic tissues, with the longer γ2 chain transcript strongly expressed in epithelia of all tissues studied, while distinct expression of the shorter γ2* chain mRNA was observed only in the cerebral cortex, in lung, and in distal tubules of the kidney.