Novel Vertebrate Genes and Putative Regulatory Elements Identified at Kidney Disease and NR2E1/fierce Loci

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....

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 2002-07, Vol.80 (1), p.45-53
Main Authors: Abrahams, Brett S, Mak, Grace M, Berry, Melissa L, Palmquist, Diana L, Saionz, Jennifer R, Tay, Alice, Tan, Y.H, Brenner, Sydney, Simpson, Elizabeth M, Venkatesh, Byrappa
Format: Article
Language:English
Subjects:
Alternative Splicing
Amino Acid Sequence
Animals
Biological and medical sciences
Carrier Proteins - genetics
Fundamental and applied biological sciences. Psychology
Genes. Genome
Humans
Interspersed Repetitive Sequences
Kidney Diseases - genetics
Mice - genetics
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Receptors, Cytoplasmic and Nuclear - genetics
Regulatory Sequences, Nucleic Acid
RNA, Untranslated
Sequence Alignment
Sequence Analysis, DNA
Sequence Homology
Synteny
Takifugu - genetics
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Summary: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.
ISSN:0888-7543
1089-8646
DOI:10.1006/geno.2002.6795