[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-102.
PubMed=4033658 [NCBI, ExPASy, EBI, Israel, Japan]
Meakin S.O.,
Breitman M.L.,
Tsui L.-C.;
"Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.";
Mol. Cell. Biol. 5:1408-1414(1985).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Lens;
Petrash J.M.,
Mathur S.,
Manoharan M.,
Andley U.P.;
"Cloning and expression of human lens crystallins.";
Invest. Ophthalmol. Vis. Sci. 36:S882-S882(1995).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03466; PubMed=15815621 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W.,
Graves T.A.,
Fulton R.S.,
Fulton L.A.,
Pepin K.H.,
Minx P.,
Wagner-McPherson C.,
Layman D.,
Wylie K.,
Sekhon M.,
Becker M.C.,
Fewell G.A.,
Delehaunty K.D.,
Miner T.L.,
Nash W.E.,
Kremitzki C.,
Oddy L.,
Du H.,
Sun H., ![]()
Bradshaw-Cordum H.,
Ali J.,
Carter J.,
Cordes M.,
Harris A.,
Isak A.,
van Brunt A.,
Nguyen C.,
Du F.,
Courtney L.,
Kalicki J.,
Ozersky P.,
Abbott S.,
Armstrong J.,
Belter E.A.,
Caruso L.,
Cedroni M.,
Cotton M.,
Davidson T.,
Desai A.,
Elliott G.,
Erb T.,
Fronick C.,
Gaige T.,
Haakenson W.,
Haglund K.,
Holmes A.,
Harkins R.,
Kim K.,
Kruchowski S.S.,
Strong C.M.,
Grewal N.,
Goyea E.,
Hou S.,
Levy A.,
Martinka S.,
Mead K.,
McLellan M.D.,
Meyer R.,
Randall-Maher J.,
Tomlinson C.,
Dauphin-Kohlberg S.,
Kozlowicz-Reilly A.,
Shah N.,
Swearengen-Shahid S.,
Snider J.,
Strong J.T.,
Thompson J.,
Yoakum M.,
Leonard S.,
Pearman C.,
Trani L.,
Radionenko M.,
Waligorski J.E.,
Wang C.,
Rock S.M.,
Tin-Wollam A.-M.,
Maupin R.,
Latreille P.,
Wendl M.C.,
Yang S.-P.,
Pohl C.,
Wallis J.W.,
Spieth J.,
Bieri T.A.,
Berkowicz N.,
Nelson J.O.,
Osborne J.,
Ding L.,
Meyer R.,
Sabo A.,
Shotland Y.,
Sinha P.,
Wohldmann P.E.,
Cook L.L.,
Hickenbotham M.T.,
Eldred J.,
Williams D.,
Jones T.A.,
She X.,
Ciccarelli F.D.,
Izaurralde E.,
Taylor J.,
Schmutz J.,
Myers R.M.,
Cox D.R.,
Huang X.,
McPherson J.D.,
Mardis E.R.,
Clifton S.W.,
Warren W.C.,
Chinwalla A.T.,
Eddy S.R.,
Marra M.A.,
Ovcharenko I.,
Furey T.S.,
Miller W.,
Eichler E.E.,
Bork P.,
Suyama M.,
Torrents D.,
Waterston R.H.,
Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4.";
Nature 434:724-731(2005).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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PROTEIN SEQUENCE OF 2-11.
DOI=10.1074/jbc.272.4.2268; PubMed=8999933 [NCBI, ExPASy, EBI, Israel, Japan]
Lampi K.J.,
Ma Z.,
Shih M.,
Shearer T.R.,
Smith J.B.,
Smith D.L.,
David L.L.;
"Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.";
J. Biol. Chem. 272:2268-2275(1997).
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[6]
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SUSCEPTIBILITY TO OXIDATION, AND MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
DOI=10.1073/pnas.122231399; PubMed=12060738 [NCBI, ExPASy, EBI, Israel, Japan]
MacCoss M.J.,
McDonald W.H.,
Saraf A.,
Sadygov R.,
Clark J.M.,
Tasto J.J.,
Gould K.L.,
Wolters D.,
Washburn M.,
Weiss A.,
Clark J.I.,
Yates J.R. III;
"Shotgun identification of protein modifications from protein complexes and lens tissue.";
Proc. Natl. Acad. Sci. U.S.A. 99:7900-7905(2002).
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[7]
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MUTAGENESIS OF PRO-24.
DOI=10.1021/bi0479611; PubMed=15709761 [NCBI, ExPASy, EBI, Israel, Japan]
Pande A.,
Annunziata O.,
Asherie N.,
Ogun O.,
Benedek G.B.,
Pande J.;
"Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.";
Biochemistry 44:2491-2500(2005).
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[8]
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X-RAY CRYSTALLOGRAPHY (1.25 ANGSTROMS), AND X-RAY CRYSTALLOGRAPHY (1.15 ANGSTROMS) OF VARIANT HIS-59.
DOI=10.1016/S0022-2836(03)00375-9; PubMed=12729747 [NCBI, ExPASy, EBI, Israel, Japan]
Basak A.,
Bateman O.,
Slingsby C.,
Pande A.,
Asherie N.,
Ogun O.,
Benedek G.B.,
Pande J.;
"High-resolution X-ray crystal structures of human gammaD crystallin (1.25 A) and the R58H mutant (1.15 A) associated with aculeiform cataract.";
J. Mol. Biol. 328:1137-1147(2003).
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[9]
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3D-STRUCTURE MODELING.
DOI=10.1016/S0006-291X(02)02895-4; PubMed=12507494 [NCBI, ExPASy, EBI, Israel, Japan]
Salim A.,
Zaidi Z.H.;
"Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.";
Biochem. Biophys. Res. Commun. 300:624-630(2003).
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[10]
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VARIANT CACA HIS-59.
DOI=10.1086/302619; PubMed=10521291 [NCBI, ExPASy, EBI, Israel, Japan]
Heon E.,
Priston M.,
Schorderet D.F.,
Billingsley G.D.,
Girard P.O.,
Lubsen N.,
Munier F.L.;
"The gamma-crystallins and human cataracts: a puzzle made clearer.";
Am. J. Hum. Genet. 65:1261-1267(1999).
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[11]
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VARIANT PROGRESSIVE PUNCTATE CATARACT CYS-15.
DOI=10.1073/pnas.96.3.1008; PubMed=9927684 [NCBI, ExPASy, EBI, Israel, Japan]
Stephan D.A.,
Gillanders E.,
Vanderveen D.,
Freas-Lutz D.,
Wistow G.,
Baxevanis A.D.,
Robbins C.M.,
VanAuken A.,
Quesenberry M.I.,
Bailey-Wilson J.,
Juo S.-H.H.,
Trent J.M.,
Smith L.,
Brownstein M.J.;
"Progressive juvenile-onset punctate cataracts caused by mutation of the gamma-D-crystallin gene.";
Proc. Natl. Acad. Sci. U.S.A. 96:1008-1012(1999).
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[12]
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VARIANT CATARACT SER-37.
DOI=10.1093/hmg/9.12.1779; PubMed=10915766 [NCBI, ExPASy, EBI, Israel, Japan]
Kmoch S.,
Brynda J.,
Asfaw B.,
Bezouska K.,
Novak P.,
Rezacova P.,
Ondrova L.,
Filipec M.,
Sedlacek J.,
Elleder M.;
"Link between a novel human gamma-D-crystallin allele and a unique cataract phenotype explained by protein crystallography.";
Hum. Mol. Genet. 9:1779-1786(2000).
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[13]
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CHARACTERIZATION OF VARIANT PROGRESSIVE PUNCTATE CATARACT CYS-15.
DOI=10.1073/pnas.040554397; PubMed=10688888 [NCBI, ExPASy, EBI, Israel, Japan]
Pande A.,
Pande J.,
Asherie N.,
Lomakin A.,
Ogun O.,
King J.A.,
Lubsen N.H.,
Walton D.,
Benedek G.B.;
"Molecular basis of a progressive juvenile-onset hereditary cataract.";
Proc. Natl. Acad. Sci. U.S.A. 97:1993-1998(2000).
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[14]
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CHARACTERIZATION OF VARIANTS CATARACT SER-37 AND HIS-59.
DOI=10.1073/pnas.101124798; PubMed=11371638 [NCBI, ExPASy, EBI, Israel, Japan]
Pande A.,
Pande J.,
Asherie N.,
Lomakin A.,
Ogun O.,
King J.,
Benedek G.B.;
"Crystal cataracts: human genetic cataract caused by protein crystallization.";
Proc. Natl. Acad. Sci. U.S.A. 98:6116-6120(2001).
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[15]
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VARIANT LAMELLAR CATARACT THR-24, AND VARIANT VAL-102.
DOI=10.1136/jmg.39.5.352; PubMed=12011157 [NCBI, ExPASy, EBI, Israel, Japan]
Santhiya S.T.,
Shyam Manohar M.,
Rawlley D.,
Vijayalakshmi P.,
Namperumalsamy P.,
Gopinath P.M.,
Loester J.,
Graw J.;
"Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.";
J. Med. Genet. 39:352-358(2002).
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[16]
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VARIANT CCA3 THR-24.
DOI=10.1136/jmg.40.4.262; PubMed=12676897 [NCBI, ExPASy, EBI, Israel, Japan]
Nandrot E.,
Slingsby C.,
Basak A.,
Cherif-Chefchaouni M.,
Benazzouz B.,
Hajaji Y.,
Boutayeb S.,
Gribouval O.,
Arbogast L.,
Berraho A.,
Abitbol M.,
Hilal L.;
"Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.";
J. Med. Genet. 40:262-267(2003).
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[17]
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VARIANT PCC ALA-107.
PubMed=16943771 [NCBI, ExPASy, EBI, Israel, Japan]
Messina-Baas O.M.,
Gonzalez-Huerta L.M.,
Cuevas-Covarrubias S.A.;
"Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.";
Mol. Vis. 12:995-1000(2006).
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[18]
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VARIANT PCC SER-24.
DOI=10.1086/518616; PubMed=17564961 [NCBI, ExPASy, EBI, Israel, Japan]
Plotnikova O.V.,
Kondrashov F.A.,
Vlasov P.K.,
Grigorenko A.P.,
Ginter E.K.,
Rogaev E.I.;
"Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.";
Am. J. Hum. Genet. 81:32-43(2007).
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