TY - JOUR
T1 - Human bZIP transcription factor gene NRL
T2 - Structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration
AU - Farjo, Qais
AU - Jackson, Anne
AU - Pieke-Dahl, Sandra
AU - Scott, Kathy
AU - Kimberling, William J.
AU - Sieving, Paul A.
AU - Richards, Julia E.
AU - Swaroop, Anand
N1 - Funding Information:
We thank Dr. Alan Wright for providing the sequence of exon 3 primers used in this study and Ms. Dorothy Giebel for assistance in preparation of the manuscript. This research was supported in part by National Institutes of Health (EY11115), The Foundation Fighting Blindness, and Research to Prevent Blindness. We also acknowledge NIH Grants EY07003 (CORE), M01-RR00042 (General Clinical Research Center), and a Shared Equipment Grant from the Of®ce of Vice President for Research. A.S. is recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award.
PY - 1997
Y1 - 1997
N2 - The NRL gene encodes an evolutionarily conserved basic motif-leucine zipper transcription factor that is implicated in regulating the expression of the photoreceptor-specific gene rhodopsin. NRL is expressed in postmitotic neuronal cells and in lens during embryonic development, but exhibits a retina-specific pattern of expression in the adult. To understand regulation of NRL expression and to investigate its possible involvement in retinopathies, we have determined the complete sequence of the human NRL gene, identified a polymorphic (CA)(n) repeat (identical to D14S64) within the NRL-containing cosmid, and refined its location by linkage analysis. Since a locus for autosomal recessive retinitis pigmentosa (arRP) has been linked to markers at 14q11 and since mutations in rhodopsin can lead to RP, we sequenced genomic PCR products of the NRL gene and of the rhodopsin-Nrl response element from a panel of patients representing independent families with inherited retinal degeneration. The analysis did not reveal any causative mutations in this group of patients. These investigations provide the basis for delineating the DNA sequence elements that regulate NRL expression in distinct neuronal cell types and should assist in the analysis of NRL as a candidate gene for inherited diseases/syndromes affecting visual function.
AB - The NRL gene encodes an evolutionarily conserved basic motif-leucine zipper transcription factor that is implicated in regulating the expression of the photoreceptor-specific gene rhodopsin. NRL is expressed in postmitotic neuronal cells and in lens during embryonic development, but exhibits a retina-specific pattern of expression in the adult. To understand regulation of NRL expression and to investigate its possible involvement in retinopathies, we have determined the complete sequence of the human NRL gene, identified a polymorphic (CA)(n) repeat (identical to D14S64) within the NRL-containing cosmid, and refined its location by linkage analysis. Since a locus for autosomal recessive retinitis pigmentosa (arRP) has been linked to markers at 14q11 and since mutations in rhodopsin can lead to RP, we sequenced genomic PCR products of the NRL gene and of the rhodopsin-Nrl response element from a panel of patients representing independent families with inherited retinal degeneration. The analysis did not reveal any causative mutations in this group of patients. These investigations provide the basis for delineating the DNA sequence elements that regulate NRL expression in distinct neuronal cell types and should assist in the analysis of NRL as a candidate gene for inherited diseases/syndromes affecting visual function.
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U2 - 10.1006/geno.1997.4964
DO - 10.1006/geno.1997.4964
M3 - Article
C2 - 9344665
AN - SCOPUS:0030665053
VL - 45
SP - 395
EP - 401
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -