caa a22 4500 397573294 CHVBK 20180308164847.0 cr unu---uuuuu 161202e199611 xx s 000 0 eng 10.1093/hmg/5.11.1785 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.11.1785 A Gene Transcribed from the Bidirectional ATM Promoter Coding for a Serine Rich Protein: Amino Acid Sequence, Structure and Expression Studies [Elektronische Daten] [Philip J. Byrd, Paul R. Cooper, Tatjana Stankovic, Harjit S. Kullar, Giles D. J. Watts, Paula J. Robinson, A. Malcolm, R. Taylor] In an earlier report we showed that the 5′ end of the gene for ataxia telangiectasia ATM is within 700 bp of the 5′ end of a novel gene E14, and suggested that the CpG island that separates these genes functions as a bidirectional promoter. We have now determined the complete amino acid sequence of the E14 protein, defined the exon/intron structure of the gene and estimate that the complete gene is more than 55 kb in length. The E14 gene appears to be a housekeeping gene that is expressed in all tissues, including all parts of the brain. The E14/ATM promoter organisation is conserved in man, monkey and mouse, although the mouse promoter is more compact and appears to lack two of the four putative Sp1 boxes found in the human promoter. Reporter gene constructs showed that the human and mouse E14/ATM promoters were indeed bidirectional, that the ATM side of the human promoter was three times stronger than the E14 side, and that the mouse promoter (in human cells) directed transcription with equal efficiency in both directions, but at a lower level than the human promoter. Analysis of a small number of A-T patients for mutations in the promoter region or the E14 coding sequence did not provide evidence to suggest that E14 contributes to the A-T phenotype. © 1996 Oxford University Press Byrd Philip J. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Cooper Paul R. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Stankovic Tatjana CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Kullar Harjit S. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Watts Giles D. J. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Robinson Paula J. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Malcolm A. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Taylor R. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut Human Molecular Genetics Oxford University Press 5/11(1996-11), 1785-1791 0964-6906 5:11<1785 1996 5 hmg https://doi.org/10.1093/hmg/5.11.1785 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.11.1785 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Byrd Philip J. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Cooper Paul R. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Stankovic Tatjana CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Kullar Harjit S. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Watts Giles D. J. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Robinson Paula J. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Malcolm A. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 700 1- Taylor R. CRC Institute for Cancer Studies, The University of Birmingham Medical School, Birmingham B15 2TJ, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/11(1996-11), 1785-1791 0964-6906 5:11<1785 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