Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3

Article Article scientifique Article Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3 eng 1997 author Giacobino Ariane 28204 author Chen Haiming 29833 author Peitsch M. C. author Rossier Colette 513811 author Antonarakis Stylianos 22813 309-320 10.1006/geno.1997.4845 9325052 0888-7543 http://www.sciencedirect.com/science/article/pii/S088875439794845X To contribute to the development of the transcription map of human chromosome 21 (HC21), we have used exon trapping from pools of HC21-specific cosmids. Using selected trapped exons, we have identified a novel gene (named TMPRSS2) that encodes a multimeric protein with a serine protease domain. The TMPRSS2 3.8-kb mRNA is expressed strongly in small intestine and weakly in several other tissues. The full-length cDNA encodes a predicted protein of 492 amino acids that contains the following domains: (i) A serine protease domain (aa 255-492) of the S1 family that probably cleaves at Arg or Lys residues. (ii) An SRCR (scavenger receptor cysteine-rich) domain (aa 149-242) of group A (6 conserved Cys). This type of domain is involved in the binding to other cell surface or extracellular molecules. (iii) An LDLRA (LDL receptor class A) domain (aa 113-148). This type of domain forms a binding site for calcium. (iv) A predicted transmembrane domain (aa 84-106). No typical signal peptide was recognized. The gene was mapped to 21q22.3 between markers ERG and D21S56 in the same P1 as MX1. The physiological role of TMPRSS2 and its involvement in trisomy 21 phenotypes or monogenic disorders that map to HC21 are unknown. Amino Acid Sequence Base Sequence Blotting, Northern Chromosome Mapping Chromosomes, Human, Pair 21 Cloning, Molecular Crystallography, X-Ray Exons Genes Humans Introns Membrane Proteins/ chemistry/genetics Molecular Sequence Data Protein Structure, Tertiary Receptors, Cell Surface/ chemistry/genetics Receptors, Immunologic Receptors, LDL/ chemistry/genetics Receptors, Lipoprotein Receptors, Scavenger Scavenger Receptors, Class A Scavenger Receptors, Class B Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid Serine Endopeptidases/chemistry/ genetics/isolation & purification Dewey 616 56 Département de médecine 221 false 580 Groupe Giacobino Ariane (génétique) 923 196 Pathologie Moléculaire de la Trisomie 21 et le Génome Humain 248 Genomics 44 3 9166dffc-5117-4186-98c0-bdba7ddee5f6 Article Restricted file1.pdf 1206424 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département de médecine

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Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3	Genomics			1997	648	0

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Chen, Haiming