NRL_(gene)

Gene ontology

Molecular function:

• transcription factor activity
• specific RNA polymerase II transcription factor activity
• sequence-specific DNA binding
• protein dimerization activity

Cellular component:

• nucleus

Biological process:

• transcription
• regulation of transcription, DNA-dependent
• transcription from RNA polymerase II promoter
• visual perception
• positive regulation of rhodopsin gene activity
• positive regulation of transcription from RNA polymerase II promoter
• retinal rod cell development
• response to stimulus

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 photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases.¹

Further reading

Yang-Feng TL, Swaroop A (1992). "Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2.". Genomics 14 (2): 491–2. PMID 1427865.
Swaroop A, Xu JZ, Pawar H, et al. (1992). "A conserved retina-specific gene encodes a basic motif/leucine zipper domain.". Proc. Natl. Acad. Sci. U.S.A. 89 (1): 266–70. PMID 1729696.
Kumar R, Chen S, Scheurer D, et al. (1997). "The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures.". J. Biol. Chem. 271 (47): 29612–8. PMID 8939891.
Farjo Q, Jackson A, Pieke-Dahl S, et al. (1998). "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. doi:10.1006/geno.1997.4964. PMID 9344665.
Chen S, Wang QL, Nie Z, et al. (1997). "Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes.". Neuron 19 (5): 1017–30. PMID 9390516.
Bessant DA, Payne AM, Mitton KP, et al. (1999). "A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.". Nat. Genet. 21 (4): 355–6. doi:10.1038/7678. PMID 10192380.
Mitton KP, Swain PK, Chen S, et al. (2000). "The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.". J. Biol. Chem. 275 (38): 29794–9. doi:10.1074/jbc.M003658200. PMID 10887186.
Swain PK, Hicks D, Mears AJ, et al. (2001). "Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors.". J. Biol. Chem. 276 (39): 36824–30. doi:10.1074/jbc.M105855200. PMID 11477108.
DeAngelis MM, Grimsby JL, Sandberg MA, et al. (2002). "Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.". Arch. Ophthalmol. 120 (3): 369–75. PMID 11879142.
Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "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.". Mol. Vis. 8: 196–204. PMID 12107411.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Acar C, Mears AJ, Yashar BM, et al. (2003). "Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.". Mol. Vis. 9: 14–7. PMID 12552256.
Mitton KP, Swain PK, Khanna H, et al. (2003). "Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor.". Hum. Mol. Genet. 12 (4): 365–73. PMID 12566383.
Bessant DA, Holder GE, Fitzke FW, et al. (2003). "Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.". Arch. Ophthalmol. 121 (6): 793–802. doi:10.1001/archopht.121.6.793. PMID 12796249.
Pittler SJ, Zhang Y, Chen S, et al. (2004). "Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.". J. Biol. Chem. 279 (19): 19800–7. doi:10.1074/jbc.M401864200. PMID 15001570.
Friedman JS, Khanna H, Swain PK, et al. (2004). "The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein.". J. Biol. Chem. 279 (45): 47233–41. doi:10.1074/jbc.M408298200. PMID 15328344.
Wright AF, Reddick AC, Schwartz SB, et al. (2005). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.". Hum. Mutat. 24 (5): 439. doi:10.1002/humu.9285. PMID 15459973.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Nishiguchi KM, Friedman JS, Sandberg MA, et al. (2005). "Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.". Proc. Natl. Acad. Sci. U.S.A. 101 (51): 17819–24. doi:10.1073/pnas.0408183101. PMID 15591106.
Khanna H, Akimoto M, Siffroi-Fernandez S, et al. (2006). "Retinoic acid regulates the expression of photoreceptor transcription factor NRL.". J. Biol. Chem. 281 (37): 27327–34. doi:10.1074/jbc.M605500200. PMID 16854989.

External links

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