Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci

被引:23
作者
Abrahams, BS
Mak, GM
Berry, ML
Palmquist, DL
Saionz, JR
Tay, A
Tan, YH
Brenner, S
Simpson, EM
Venkatesh, B
机构
[1] Univ British Columbia, British Columbia Res Inst Childrens & Womens Hlth, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 4H4, Canada
[2] Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 4H4, Canada
[3] Univ British Columbia, Grad Program Neurosci, Vancouver, BC V5Z 4H4, Canada
[4] Jackson Lab, Bar Harbor, ME 04609 USA
[5] Inst Mol & Cell Biol, Singapore 117609, Singapore
关键词
brain; comparative sequence analysis; eye; HSPC019; SNX3;
D O I
10.1006/geno.2002.6795
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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.
引用
收藏
页码:45 / 53
页数:9
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