NRL (gene) explained

Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.^{[1] [2] [3]}

Function

This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoreceptor cell development and function. Mutations in this gene have been associated with retinitis pigmentosa and degenerative diseases of the retina.

See also

• Transcription factor

References

Further reading

• Swaroop A, Xu JZ, Pawar H, Jackson A, Skolnick C, Agarwal N . A conserved retina-specific gene encodes a basic motif/leucine zipper domain . Proceedings of the National Academy of Sciences of the United States of America . 89 . 1 . 266–70 . Jan 1992 . 1729696 . 48217 . 10.1073/pnas.89.1.266 . 1992PNAS...89..266S . free .
• Kumar R, Chen S, Scheurer D, Wang QL, Duh E, Sung CH, Rehemtulla A, Swaroop A, Adler R, Zack DJ . The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures . The Journal of Biological Chemistry . 271 . 47 . 29612–8 . Nov 1996 . 8939891 . 10.1074/jbc.271.47.29612 . free .
• Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimberling WJ, Sieving PA, Richards JE, Swaroop A . Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration . Genomics . 45 . 2 . 395–401 . Oct 1997 . 9344665 . 10.1006/geno.1997.4964 .
• Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ . Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes . Neuron . 19 . 5 . 1017–30 . Nov 1997 . 9390516 . 10.1016/S0896-6273(00)80394-3 . 18485264 . free .
• Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A . The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation . The Journal of Biological Chemistry . 275 . 38 . 29794–9 . Sep 2000 . 10887186 . 10.1074/jbc.M003658200 . free .
• Swain PK, Hicks D, Mears AJ, Apel IJ, Smith JE, John SK, Hendrickson A, Milam AH, Swaroop A . Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors . The Journal of Biological Chemistry . 276 . 39 . 36824–30 . Sep 2001 . 11477108 . 10.1074/jbc.M105855200 . free .
• DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP . Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa . Archives of Ophthalmology . 120 . 3 . 369–75 . Mar 2002 . 11879142 . 10.1001/archopht.120.3.369 .
• Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K . Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts . Molecular Vision . 8 . 196–204 . Jun 2002 . 12107411 .
• Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A . Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene . Molecular Vision . 9 . 14–7 . Jan 2003 . 12552256 .
• Mitton KP, Swain PK, Khanna H, Dowd M, Apel IJ, Swaroop A . Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor . Human Molecular Genetics . 12 . 4 . 365–73 . Feb 2003 . 12566383 . 10.1093/hmg/ddg035 . free .
• Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC . Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene . Archives of Ophthalmology . 121 . 6 . 793–802 . Jun 2003 . 12796249 . 10.1001/archopht.121.6.793 .
• Pittler SJ, Zhang Y, Chen S, Mears AJ, Zack DJ, Ren Z, Swain PK, Yao S, Swaroop A, White JB . Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity . The Journal of Biological Chemistry . 279 . 19 . 19800–7 . May 2004 . 15001570 . 10.1074/jbc.M401864200 . free .
• Friedman JS, Khanna H, Swain PK, Denicola R, Cheng H, Mitton KP, Weber CH, Hicks D, Swaroop A . The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein . The Journal of Biological Chemistry . 279 . 45 . 47233–41 . Nov 2004 . 15328344 . 10.1074/jbc.M408298200 . free .
• Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A . Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome . Human Mutation . 24 . 5 . 439 . Nov 2004 . 15459973 . 10.1002/humu.9285 . 18561451 .
• Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP . Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function . Proceedings of the National Academy of Sciences of the United States of America . 101 . 51 . 17819–24 . Dec 2004 . 15591106 . 535407 . 10.1073/pnas.0408183101 . 2004PNAS..10117819N . free .
• Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A . Retinoic acid regulates the expression of photoreceptor transcription factor NRL . The Journal of Biological Chemistry . 281 . 37 . 27327–34 . Sep 2006 . 16854989 . 1592579 . 10.1074/jbc.M605500200 . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview

Notes and References

1. Yang-Feng TL, Swaroop A . Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2 . Genomics . 14 . 2 . 491–2 . Oct 1992 . 1427865 . 10.1016/S0888-7543(05)80248-4 . 2027.42/29820 . free .
2. Bessant DA, Payne AM, Mitton KP, Wang QL, Swain PK, Plant C, Bird AC, Zack DJ, Swaroop A, Bhattacharya SS . A mutation in NRL is associated with autosomal dominant retinitis pigmentosa . Nature Genetics . 21 . 4 . 355–6 . Apr 1999 . 10192380 . 10.1038/7678 . 28621258 .
3. Web site: Entrez Gene: NRL neural retina leucine zipper.