caa a22 4500 445861746 CHVBK 20180317145445.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s00439-010-0940-2 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0940-2 Characterization of the ZBTB42 gene in humans and mice [Elektronische Daten] [Stephanie Devaney, Suzanne Mate, Joseph Devaney, Eric Hoffman] A 12kb haplotype upstream of the key signaling protein gene, AKT1, has been associated with insulin resistance and metabolic syndrome (Devaney et al. 2010). The region contains the first exon and promoter sequences of AKT1, but also includes the complete transcript unit for a highly conserved yet uncharacterized zinc finger-containing protein (ZBTB42). One of the component SNPs of the 12kb haplotype metabolic syndrome haplotype changes a conserved amino acid in the predicted ZBTB42 protein, increasing the potential significance of the ZBTB42 transcript unit for contributing to disease risk. Using RT-PCR of human and mouse cells, we verified that the two exon ZBTB42 was expressed and correctly spliced in human skeletal muscle, and murine C2C12 cells. Production of peptide antibodies showed the expected protein in human (47kD) and mouse (49kD) immunoblots, and murine tissue distribution showed strongest expression in muscle and ovary. Immunostaining showed nuclear localization of the ZBTB42 protein in human muscle. Confocal imaging analyses of murine muscle showed ZBTB42 distributed in the nucleoplasm, with particular enrichment in nuclei underlying the neuromuscular junctions. The genetic association data of metabolic syndrome, coupled with the molecular characterization of the ZBTB42 transcript unit and encoded protein presented here, suggests that ZBTB42 may be involved in metabolic syndrome phenotypes. The Author(s), 2010 Devaney Stephanie Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut Mate Suzanne Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut Devaney Joseph Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut Hoffman Eric Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut Human Genetics Springer-Verlag 129/4(2011-04-01), 433-441 0340-6717 129:4<433 2011 129 439 https://doi.org/10.1007/s00439-010-0940-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0940-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Devaney Stephanie Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut NATIONALLICENCE 700 1- Mate Suzanne Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut NATIONALLICENCE 700 1- Devaney Joseph Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut NATIONALLICENCE 700 1- Hoffman Eric Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave. NW, 20010, Washington, DC, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/4(2011-04-01), 433-441 0340-6717 129:4<433 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer