Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase α-subunit and chromosomal localization of the human gene

Pittler, Steven J.; Baehr, Wolfgang; Wasmuth, John J.; McConnell, David G.; Champagne, Mary S.; Tuinen, P van; Ledbetter, David H.; Davis, Ronald L.

doi:10.1016/0888-7543(90)90567-e

Cited by 98 publications

(34 citation statements)

References 27 publications

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“…In addition, we were not able to assign genes LOX, GRL, PDEA, HK3, NPM1, CANX, and FGFR4, previously mapped to 5q31-qter, to this contig. 23,37,[39][40][41][42] This might be due to the fact that LOX (location given as 5q23.3-5q31.2), 39 GRL (5q22-5q35), 23 and PDEA (5q31.2-5q34) 40 lie proximal to our contig and HK3 (5q35.2), 37 NPM1 (5q35), 41 CANX (5q35), 42 and FGFR4 (5q22-5q35) 23 are located distal to or within the gap of our contig. BLAST homology searches identified the two ESTs EST304953 and U20185 (Whitehead Institute/MIT Centre for Genome Research) as portions of known genes.…”

Section: Discussionmentioning

confidence: 99%

“…TTTCACTGGGTACAACATTCTT 936H1R D5S2910 Y13749 TTGCAGTCATTTACTTCTACTCA 165 60 This study CAGTCTCACCATTTCTATGTCAG 809B9L D5S2911 Y13741 AGAAGGCTAGAGGGCACTG 194 60 This study TCAGAGTAAAGCTCCTCATGC 930D10L D5S2912 Y13747 GTCTCTTTTTACAGTTTTTG 128 52 This study GACACATTTAGATTGCAAG 822E10L D5S2913 Y13742 GCAGGCATCTAAGATATAAC 139 52 This study AGCCAAGCTATTACATCTAC 822E10R D5S2914 Y13743 GGCATTAACCCATATTTATC 171 56 This study TAAATCTTGTAAAAACCTGTCA 693F4L D5S2915 Y13738 AGGCCTAGTGGAAGAGTGTTG 165 63 This study TGGGGTTATTATTAGTCTCCTTG 944E2L D5S2916 Y13750 ACATGATTTGATACACTGAGAAGA 215 60 This study CATCCAGTTATCACGTCTCCT 693F4R D5S2917 Y13739 AGAACTAGACATTTACAATAACATC 111 57 This study ACAATCATTAGTTTCATGTTTG 737H11L D5S2921 Y13740 CCCAGTGAAGCCCTCTAAG 141 61 This study AATAGAGAAGACAAACCAGAAGC 889G5L D5S2918 Y13746 ATTGGCATTTTCCCTACAG 88 60 This study TAGACTAGAGAATTTCAAGAGGG 856E9R D5S2919 Y13745 ATCATTTTGAGAGATGTATC 143 50 This study CCATCTAGCATTCTACTTC 856E9L D5S2920 Y13744 TAGCAACTGAGGAACAAACG 170 61 This Several genes, including LOX (lysyl oxidase), 39 GRL (glucocorticoid receptor), 23 PDEA (phosphodiesterase alpha), 40 HK3, 37 NPM1 (nucleophosmin 1), 41 CANX (calnexin),...…”

Section: Construction Of Transcript Map Of 5q313-qtermentioning

confidence: 99%

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Integrated physical and transcript map of 5q31.3-qter

Kostrzewa

Dixon

et al. 1998

Eur J Hum Genet

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We have constructed a physical and transcript map of 5q31.3-qter. The contig comprises 173 yeast artificial chromosomes (YACs) to which 159 sequence tagged sites (STSs), 47 expressed sequence tags (ESTs), and 32 genes were assigned. Previously published partial YAC contigs of the region have been refined and integrated. Given that the region contains 25 Mbp of DNA the average spacing of markers is approximately 100 kb.

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Section: Discussionmentioning

confidence: 99%

Section: Construction Of Transcript Map Of 5q313-qtermentioning

confidence: 99%

Integrated physical and transcript map of 5q31.3-qter

Kostrzewa

Dixon

et al. 1998

Eur J Hum Genet

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“…Thus, the PDE j&sub-unit amino acid sequence deduced from the cDNA nucleotide sequence consists of 854 residues with a calculated molecular mass of 98,416 Da. The amino acid sequence of the human PDE ~-subunit has 91.1% and 92.4% identity with the PDE ~-subunits of bovine [6] and mouse [l l], respectively; 71.9%, 72% and 71.1% identity with the PDE a-subunits of human [12], bovine [S] and mouse [I 11, respectively, and 63.2% identity with the cone PDE a'-subunit from bovine retina [13].…”

Section: Resultsmentioning

confidence: 99%

The human rod photoreceptor cGMP phosphodiesterase β‐subunit

et al. 1993

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cDNA clones encoding the @bunit of the photoreceptor cGMP phosphodiesterase (PDE) were isolated from a human retina library and their sequence was determined. The encoded polypeptide consists of 854 amino acid residues with a calculated molecular mass of 98,416 Da. Alignment of the deduced amino acid sequence with the earlier analysed a-, p-and a'-subunits of bovine and mouse PDEs demonstrates a high homology. Two overlapping recombinant 1 phage clones containing 26 kb of the human PDE/%ubunit gene were isolated from the genomic library. A total nucleotide sequence of exons 4-22 of the PDE /?-subunit gene was established which completely corresponded to the cDNA structure. According to sequence analysis no potential possibility for alternative splicing of the p-subunit gene was observed between exons 20 and 21 which led to the formation of the /3'-subunit as described for mouse PDE. Polymerase chain reaction (PCR) experiments also confirm the absence of the PDE /3'-subunit in human retina.

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“…Thus, human cone PDEcd amino acid sequence deduced from the cDNA structure consists of 858 residues with calculated molecular mass of 99169 Da. Human cone PDE~' has 89.1% and 82.7% homology to bovine [6] and chicken [13] cone PDEa', respectively; 63.8% homology to human rod PDE a subunit [14]; and 64.5% homology to human rod PDE 13 subunit [7]. Human cone PDEct', like mammalian visual PDEs, has an internal homologous repeat of the amino acid sequence in its N-terminal part.…”

Section: Ass ~A~h~aaatatatat T Gctag~ C Caaaaatc C Cac Ggc~ataaagt mentioning

confidence: 99%

Human cone‐specific cGMP phosphodiesterase α′ subunit: Complete cDNA sequence and gene arrangement

et al. 1996

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Four independent phage clones containing the fragments of cone-specific cGMP phosphodiesterase (PDE) c~' subunit (PDEc() cDNA were isolated from the human cDNA library. The screening of the genomic library resulted in isolation of four independent phage clones with the fragments of human cone PDEo~' gene including 5'-flanking region and exons ranged from 1 to 14 (overall 32 kilobases). Structural studies of the clones made it possible to establish the complete human cone PDEc( cDNA structure (3455 base pairs). The encoding polypeptide consists of 858 amino acid residues with a calculated molecular mass of 99169 Da. The deduced amino acid sequence displays high homology to the earlier analyzed catalytic cq [3 and c~' subunits of bovine, human, chicken and mouse photoreceptor PDEs.

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Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase α-subunit and chromosomal localization of the human gene

Cited by 98 publications

References 27 publications

Integrated physical and transcript map of 5q31.3-qter

Integrated physical and transcript map of 5q31.3-qter

The human rod photoreceptor cGMP phosphodiesterase β‐subunit

Human cone‐specific cGMP phosphodiesterase α′ subunit: Complete cDNA sequence and gene arrangement

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