caa a22 4500 39757567X CHVBK 20180308164855.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.625 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.625 Characterization of a Second Human Clathrin Heavy Chain Polypeptide Gene (CLH-22) from Chromosome 22q11 [Elektronische Daten] [Darek Kedra, Myriam Peyrard, Ingegerd Fransson, John E. Collins, Ian Dunham, Bruce A. Roe, Jan P. Dumanski] We report cloning and characterization of the second human clathrin heavy chain polypeptide gene (CLH-22) localized to chromosome 22q11. Hence H. sapiens is the first species for which two clathrin heavy chain genes have been reported. We provide 5470 bp cDNA sequence covering the entire open reading frame of the CLH-22 gene. The predicted polypeptide is composed of 1640 amino acids. Its 6 kb transcript is expressed in all of 16 tested human tissues, suggesting it is a housekeeping gene. Skeletal muscle, testis and heart show significantly higher expression levels. Compared to the previously characterized human clathrin heavy chain gene localized on chromosome 17 (CLH-17), CLH-22 shows different transcript size and expression profile in human tissues. Northern analysis of CLH-22 suggests that several alternatively spliced transcripts exist. A presumably single, 171 bp long alternatively spliced exon has been characterized. Amino acid sequence comparison between CLH-22 and CLH-17shows an overall identity and similarity of 84.7 and 91.1%, respectively. At the nucleic acid level, identity between open reading frames of both genes is 74.3%. Sequence comparison with previously cloned genes in other species suggests that counterparts of the CLH-17gene have been cloned in B. taurus and R. norvegicus, whereas presumptive mammalian homologues of the CLH-22 gene are yet to be characterized. Our Northern and Southern blot analyses of meningiomas clearly suggest the CLH-22 gene may be involved in the tumor development and can be considered as a candidate for a tumor suppressor. © 1996 Oxford University Press Kedra Darek Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut Peyrard Myriam Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut Fransson Ingegerd Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut Collins John E. The Sanger Centre, Hinxton Hall, Hinxton, Cambridge CB10 1RQ, UK aut Dunham Ian The Sanger Centre, Hinxton Hall, Hinxton, Cambridge CB10 1RQ, UK aut Roe Bruce A. Department of Chemistry and Biochemistry, University of Oklahoma, 620 Parrington Oval, Norman, OK 73019-0370, USA aut Dumanski Jan P. Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 625-631 0964-6906 5:5<625 1996 5 hmg https://doi.org/10.1093/hmg/5.5.625 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.625 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kedra Darek Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut NATIONALLICENCE 700 1- Peyrard Myriam Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut NATIONALLICENCE 700 1- Fransson Ingegerd Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut NATIONALLICENCE 700 1- Collins John E. The Sanger Centre, Hinxton Hall, Hinxton, Cambridge CB10 1RQ, UK aut NATIONALLICENCE 700 1- Dunham Ian The Sanger Centre, Hinxton Hall, Hinxton, Cambridge CB10 1RQ, UK aut NATIONALLICENCE 700 1- Roe Bruce A. Department of Chemistry and Biochemistry, University of Oklahoma, 620 Parrington Oval, Norman, OK 73019-0370, USA aut NATIONALLICENCE 700 1- Dumanski Jan P. Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-17176 Stockholm, Sweden aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 625-631 0964-6906 5:5<625 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford