A 370-kb cosmid contig of the serpin gene cluster on human chromosome 14q32.1: molecular linkage of the genes encoding alpha 1-antichymotrypsin, protein C inhibitor, kallistatin, alpha 1-antitrypsin, and corticosteroid-binding globulin

Genomics
P Rollini, R E K Fournier

Abstract

The human genes encoding alpha 1-antitrypsin (alpha 1AT, gene symbol PI), corticosteroid-binding globulin (CBG), alpha 1-antichymotrypsin (AACT), and protein C inhibitor (PCI) are related by descent, and they all map to human chromosome 14q32.1. This serine protease inhibitor (serpin) gene cluster also contains an antitrypsin-related sequence (ATR, gene symbol PIL), but the precise molecular organization of this region has not been defined. In this report we describe the generation and characterization of an approximately 370-kb cosmid contig that includes all five serpin genes. Moreover, a newly described serpin, kallistatin (KAL, gene symbol PI4), was also mapped within the region. Gene order within this interval is cen-CBG-ATR-alpha 1 AT-KAL-PCI-AACT-tel. The genes occupy approximately 320 kb of genomic DNA, and they are organized into two discrete subclusters of three genes each that are separated by approximately 170 kb. The distal subcluster includes KAL, PCI, and AACT; it occupies approximately 63 kb of DNA, and all three genes are transcribed in a proximal-to-distal orientation. Within the subcluster, there is approximately 12 kb of intergenic DNA between KAL and PCI and approximately 19 kb between PCI and AACT. The pro...Continue Reading

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Citations

Sep 1, 1999·Proceedings of the National Academy of Sciences of the United States of America·P Rollini, R E Fournier
Jul 27, 2001·Molecular Biology and Evolution·W R AtchleyH Ragg
May 2, 2003·Molecular and Cellular Biology·Mark D Marsden, R E K Fournier
Feb 12, 2002·Journal of Medical Genetics·D Kamnasaran, D W Cox
Nov 1, 2013·Human Genomics·Claire HeitVasilis Vasiliou
Nov 6, 2008·Journal of Thrombosis and Haemostasis : JTH·K Suzuki
Jan 15, 2005·Biochemical and Biophysical Research Communications·Shin-Rong HwangVivian Y H Hook
Mar 31, 2015·Cytokine·Stephen A RedpathGeorgia Perona-Wright
Jun 10, 2014·Journal of Immunological Methods·Mingce ZhangRandy Q Cron
Dec 7, 2007·Functional & Integrative Genomics·Thomas H Roberts, Jørn Hejgaard
Feb 18, 2010·Pediatrics International : Official Journal of the Japan Pediatric Society·Luis OrtegaLucía González

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