@article{96d3161139db4fd69c652f4f256fec6e,
title = "Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci",
abstract = "Fierce (frc) mice are deleted for nuclear receptor 2e1 (Nr2e1), and exhibit cerebral hypoplasia, blindness, and extreme aggression. To characterize the Nr2e1 locus, which may also contain the mouse kidney disease (kd) allele, we compared sequence from human, mouse, and the puffer fish Fugu rubripes. We identified a novel gene, c222389, containing conserved elements in noncoding regions. We also discovered a novel vertebrate gene conserved across its length in prokaryotes and invertebrates. Based on a dramatic upregulation in lactating breast, we named this gene lactation elevated-1 (LACE1) . Two separate 100-bp elements within the first NR2E1 intron were virtually identical between the three species, despite an estimated 450 million years of divergent evolution. These elements represent strong candidates for functional NR2E1 regulatory elements in vertebrates. A high degree of conservation across NR2E1 combined with a lack of interspersed repeats suggests that an array of regulatory elements embedded within the gene is required for proper gene expression.",
keywords = "Brain, Comparative sequence analysis, Eye, HSPC019, SNX3",
author = "Abrahams, {Brett S.} and Mak, {Grace M.} and Berry, {Melissa L.} and Palmquist, {Diana L.} and Saionz, {Jennifer R.} and Alice Tay and Tan, {Y. H.} and Sydney Brenner and Simpson, {Elizabeth M.} and Byrappa Venkatesh",
note = "Funding Information: We thank Xiao Hua Han (CMMT), Michele Karolak, and Tiffany Leidy (JAX) for BAC sequencing; Ruby Gill (Simpson Lab), B. H. Tay, and Diane Tan (IMCB) for technical assistance; Rosemary Oh and Ed Chan (Hayden Lab) for technical advice; Rebecca Devon (Hayden and Simpson Labs) and Farkhad Muratkhojaev (Simpson Lab) for insightful discussion; Tracey Weir for both insightful discussion and invaluable assistance in manuscript preparation (Simpson Lab); Dora Pak (Simpson Lab) for administrative support; Miroslav Hatas (CMMT) for software support; and Sohrab Shah (Ouellette Lab) for indispensable advice regarding computational analyses. We thank the UK-HGMP resource center for providing the F. rubripes cosmids. B.V. is an adjunct staff of the Department of Pediatrics, Faculty of Medicine, National University of Singapore. This work was funded by the following grants: Canadian Institute of Health Research Doctoral Research Award (B.S.A.), National Institute of Health Mental Health 1RO1MH/HD57465 (E.M.S.), Canada Research Council Chair in Genetics & Behaviour 950-01-193 (E.M.S.), and a joint Industry Canada-Canadian Institute of Health Research-Government of British Columbia-National Science and Technology Board of Singapore award.",
year = "2002",
doi = "10.1006/geno.2002.6795",
language = "English (US)",
volume = "80",
pages = "45--53",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "1",
}