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J Biol Chem, Vol. 275, Issue 2, 785-792, January 14, 2000

Structure, Chromosomal Localization, and Promoter Analysis of the Human Elastin Microfibril Interfase Located proteIN (EMILIN) Gene^*

Roberto Doliana, Anna Canton, Francesco Bucciotti, Maurizio Mongiat, Paolo Bonaldo^§, and Alfonso Colombatti^¶

From the  Divisione di Oncologia Sperimentale 2, Centro di Riferimento Oncologico, 33081 Aviano, Italy, the ^§ Istituto di Istologia ed Embriologia, Università di Padova, 35100 Padova, Italy, and the ^¶ Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, 33100 Udine, Italy

Elastin microfibril interfase-located protein (EMILIN) is an extracellular matrix glycoprotein abundantly expressed in elastin-rich tissues such as the blood vessels, skin, heart, and lung. It occurs with elastic fibers at the interface between amorphous elastin and microfibrils. In vitro experiments suggested a role for EMILIN in the process of elastin deposition. This multimodular protein consists of 995 amino acids; the domain organization includes a C1q-like globular domain at the C terminus, a short collagenous stalk, a region containing two leucine zippers, and at least four heptad repeats with a high potential for forming coiled-coil -helices and, at the N terminus, a cysteine-rich sequence characterized by a partial epidermal growth factor-like motif and homologous to a region of multimerin. Here we report the complete characterization of the human and murine EMILIN gene, their chromosomal assignment, and preliminary functional data of the human promoter. A cDNA probe corresponding to the C terminus of EMILIN was used to isolate two genomic clones from a human BAC library. Sequencing of several derived subclones allowed the characterization of the whole gene that was found to be about 8 kilobases in size and to contain 8 exons and 7 introns. The internal exons range in size from 17 base pairs to 1929 base pairs. All internal intron/exon junctions are defined by canonical splice donor and acceptor sites, and the different domains potentially involved in the formation of a coiled-coil structure are clustered in the largest exon. The 3'-end of the EMILIN gene overlaps with the 5'-end of the promoter region of the ketohexokinase gene, whose chromosomal position is between markers D2S305 and D2S165 on chromosome 2. A 1600-base pair-long sequence upstream of the translation starting point was evaluated for its promoter activity; five deletion constructs were assayed after transfection in primary chicken fibroblasts and in a human rhabdomyosarcoma cell line. This analysis indicates the existence of two contiguous regions able to modulate luciferase expression in both cell types used, one with a strong activatory function, ranging from positions 204 to 503, and the other, ranging from positions 504 to 683, with a strong inhibitory function.

The nucleotide sequence(s) reported in this paper has been submitted to the GenBank^TM/EMBL Data Bank with accession number(s) AF162780.

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