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Genomics
Volume 36, Issue 1, 15 August 1996, Pages 112-117
 
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doi:10.1006/geno.1996.0431    
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Copyright © 1996 Academic Press, Inc. All rights reserved.

Regular Article

Structure of the Promoter and Genomic Organization of the Human β′-Adaptin Gene (BAM22) from Chromosome 22q12*1

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Myriam Peyrarda, Hua-Qin Panb, Darek Kedraa, Ingegerd Franssona, Sofie Swahna, Karen Hartmanb, Sandra W. Cliftonb, Bruce A. Roeb and Jan P. Dumanski a, 1

a Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, S-171 76, Stockholm, Sweden

b Department of Chemistry and Biochemistry, University of Oklahoma, Norman, Oklahoma, 73019


Received 28 February 1996; 
accepted 2 June 1996. ;
Available online 19 April 2002.

Abstract

Adaptins are major structural components of heterotetrameric protein complexes called adaptors, which are essential in intracellular receptor transport via clathrin-coated vesicles. β-adaptins constitute one of three known classes (α, β, γ) of adaptins, including β and β′ subtypes. We previously cloned the human β′-adaptin gene (BAM22) (GDB symbol, ADTB1) from chromosome 22q12 and proposed its involvement in the development of meningiomas. Here we describe the genomic organization of this gene, which consists of 22 exons spanning over approximately 100 kb. We also report results from point mutation screening of 7 randomly chosen exons analyzed in 110 sporadic meningiomas. As part of the genomic characterization of the BAM22 locus, we sequenced 40 kb covering exons 1–4 and 12 kb upstream from the start of gene transcription. Analysis of the sequence suggests that the BAM22 gene has a CG-rich promoter.

*1 Sequence data from this article have been deposited with the EMBL/GenBank Data Libraries under Accession Nos. L48038 and U36249–U36268.

1 To whom correspondence should be addressed at Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Hospital, Building L-6, S-171 76 Stockholm, Sweden. Telephone: +46 - 8 - 729 2229. Fax: +46 - 8 - 32 77 34. E-mail: jdumanski@gen.ks.se.


Genomics
Volume 36, Issue 1, 15 August 1996, Pages 112-117
 
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