Genomes and Genes
Experts and Doctors on crystallins in Bethesda, Maryland, United States
Locale: Bethesda, Maryland, United States
- Jiao X, Munier F, Iwata F, Hayakawa M, Kanai A, Lee J, et al. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000;67:1309-13 pubmed..97; straight theta=0), and D4S2299 (Zmax=5.31; straight theta=0), on chromosome 4q35-4qtel. Multipoint analysis confirmed linkage to the region telomeric of D4S1652 with a Z(max) of 5.3 located 4 cM telomeric of marker D4S2930. ..
- Lee D, Kim R, Wistow G. An avian alpha B-crystallin. Non-lens expression and sequence similarities with both small (HSP27) and large (HSP70) heat shock proteins. J Mol Biol. 1993;232:1221-6 pubmed publisher..This raises the possibility that large and small hsps may share structural and perhaps functional features...
- Kandpal R, Rajasimha H, Brooks M, Nellissery J, Wan J, Qian J, et al. Transcriptome analysis using next generation sequencing reveals molecular signatures of diabetic retinopathy and efficacy of candidate drugs. Mol Vis. 2012;18:1123-46 pubmed..Our studies clearly demonstrate RNA-seq as a comprehensive strategy for identifying disease-specific transcripts, and for determining comparative profiles of molecular changes mediated by candidate drugs. ..
- Kim R, Gasser R, Wistow G. mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina. Proc Natl Acad Sci U S A. 1992;89:9292-6 pubmed
- Jaworski C, Chepelinsky A, Piatigorsky J. The alpha A-crystallin gene: conserved features of the 5'-flanking regions in human, mouse, and chicken. J Mol Evol. 1991;33:495-505 pubmed..The modular arrangement of conserved sequence motifs is consistent with evolutionary changes occurring at the level of gene regulation. ..
- Sax C, Cvekl A, Kantorow M, Sommer B, Chepelinsky A, Piatigorsky J. Identification of negative-acting and protein-binding elements in the mouse alpha A-crystallin -1556/-1165 region. Gene. 1994;144:163-9 pubmed..We demonstrate that the chicken delta 1-cry intron repressor binds similar nuclear proteins in chicken embryonic lens cells and mouse alpha TN4-1 lens cells.(ABSTRACT TRUNCATED AT 250 WORDS) ..
- Ren Z, Li A, Shastry B, Padma T, Ayyagari R, Scott M, et al. A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet. 2000;106:531-7 pubmed..This finding suggests that the appropriate association of mutant betagamma-crystallins into oligomers is not necessary to cause cataracts and may give us new insights into the genetic mechanism of cataract formation. ..
- Wistow G, Piatigorsky J. Gene conversion and splice-site slippage in the argininosuccinate lyases/delta-crystallins of the duck lens: members of an enzyme superfamily. Gene. 1990;96:263-70 pubmed..There may be some clues to the tertiary structures of these conserved motifs in otherwise unrelated proteins for which three-dimensional structures are known. ..
- Rodokanaki A, Holmes R, Borras T. Zeta-crystallin, a novel protein from the guinea pig lens is related to alcohol dehydrogenases. Gene. 1989;78:215-24 pubmed..Comparison of the amino acid sequence with the National Biomedical Research Foundation protein data base reveals a significant similarity of zeta-crystallin with the enzyme of the alcohol dehydrogenase family. ..
- Piatigorsky J. Gene sharing in lens and cornea: facts and implications. Prog Retin Eye Res. 1998;17:145-74 pubmed
- Sinha D, Esumi N, Jaworski C, Kozak C, Pierce E, Wistow G. Cloning and mapping the mouse Crygs gene and non-lens expression of [gamma]S-crystallin. Mol Vis. 1998;4:8 pubmed..Non-lens expression seems to increase with age in young mice, hinting that [gamma]S may have a role similar to that of a stress protein in tissues of the eye, perhaps related to accumulating insults resulting from light exposure. ..
- Ray M, Wistow G, Su Y, Meltzer P, Trent J. AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma. Proc Natl Acad Sci U S A. 1997;94:3229-34 pubmed..AIM1 is a good candidate for the putative suppressor of malignant melanoma on chromosome 6, possibly exerting its effects through interactions with the cytoskeleton. ..
- Tomarev S, Piatigorsky J. Lens crystallins of invertebrates--diversity and recruitment from detoxification enzymes and novel proteins. Eur J Biochem. 1996;235:449-65 pubmed
- Shaughnessy M, Wistow G. Absence of MHC gene expression in lens and cloning of dbpB/YB-1, a DNA-binding protein expressed in mouse lens. Curr Eye Res. 1992;11:175-81 pubmed..Northern blots detect dbpB/YB-1 mRNA in all mouse tissues and cells examined, including both mouse lens and alpha TN4-1 cells, suggesting that dbpB/YB-1 has a general and widespread role. ..
- Donovan D, Sax C, Klement J, Li X, Chepelinsky A, Piatigorsky J. Conservation of mouse alpha A-crystallin promoter activity in chicken lens epithelial cells. J Mol Evol. 1992;35:337-45 pubmed..abstract truncated at 250 words) ..
- Riazuddin S, Yasmeen A, Yao W, Sergeev Y, Zhang Q, Zulfiqar F, et al. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005;46:2100-6 pubmed..For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts. ..
- Hodin J, Wistow G. 5'-RACE PCR of mRNA for three taxon-specific crystallins: for each gene one promoter controls both lens and non-lens expression. Biochem Biophys Res Commun. 1993;190:391-6 pubmed..This suggests that for these three genes, and in contrast to at least one other example, gene recruitment does not require the presence of alternative tissue-preferred promoters. ..
- Duncan M, Li X, Ogino H, Yasuda K, Piatigorsky J. Developmental regulation of the chicken beta B1-crystallin promoter in transgenic mice. Mech Dev. 1996;57:79-89 pubmed..5 dpc transgenic mouse embryos. These data show a strict conservation of the lens-specific spatial and temporal regulation of the chicken and mouse beta B1-crystallin genes. ..
- Chambers C, Cvekl A, Sax C, Russell P. Sequence, initial functional analysis and protein-DNA binding sites of the mouse beta B2-crystallin-encoding gene. Gene. 1995;166:287-92 pubmed..Most notably is the binding of the Pax-6 paired domain (PrD) which correlates with the binding of lens cell nuclear proteins at the -80 to -40 region. ..
- Segovia L, Horwitz J, Gasser R, Wistow G. Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas. Mol Vis. 1997;3:9 pubmed..mu-crystallin may be an enzyme, possibly of amino acid metabolism, with particular importance for photoreceptors. ..
- Kannabiran C, Rogan P, Olmos L, Basti S, Rao G, Kaiser Kupfer M, et al. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis. 1998;4:21 pubmed..0 to -6.8 bits, so that splicing would not be expected to occur at the altered site. Taken together, these observations suggest that the observed mutation might be causally related to the cataracts in this family. ..
- Davis J, Davis D, Norman B, Piatigorsky J. Gene expression of the mouse corneal crystallin Aldh3a1: activation by Pax6, Oct1, and p300. Invest Ophthalmol Vis Sci. 2008;49:1814-26 pubmed publisher..These transcription factors are also implicated in the high expression of crystallin genes in the lens, consistent with the "refracton hypothesis" unifying many aspects of the lens and cornea. ..
- McDermott J, Peterson C, Piatigorsky J. Structure and lens expression of the gene encoding chicken beta A3/A1-crystallin. Gene. 1992;117:193-200 pubmed..abstract truncated at 250 words) ..
- Wistow G, Sardarian L, Gan W, Wyatt M. The human gene for gammaS-crystallin: alternative transcripts and expressed sequences from the first intron. Mol Vis. 2000;6:79-84 pubmed..The identity and function Mys of is not yet known, however, the cryptic splicing of CRYGS could produce a defective protein product, with potentially deleterious results for the adult human lens. ..
- Brady J, Garland D, Duglas Tabor Y, Robison W, Groome A, Wawrousek E. Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. Proc Natl Acad Sci U S A. 1997;94:884-9 pubmed..These studies suggest that alpha A is essential for maintaining lens transparency, possibly by ensuring that alpha B or proteins closely associated with this small heat shock protein remain soluble. ..
- Thompson M, Hawkins J, Piatigorsky J. Complete nucleotide sequence of the chicken alpha A-crystallin gene and its 5' flanking region. Gene. 1987;56:173-84 pubmed..In addition, one consensus sequence (GCAGCATGCCCTCCTAG) present in the 5' flanking region of the chicken alpha A-crystallin gene was found in the 5' flanking region of most reported crystallin genes. ..
- Gonzalez P, Rao P, Zigler J. Molecular cloning and sequencing of zeta-crystallin/quinone reductase cDNA from human liver. Biochem Biophys Res Commun. 1993;191:902-7 pubmed..The deduced amino acid sequence is 328 residues long with a calculated molecular mass of 34910 daltons and isoelectric point of 8.73. It shows 84% identity with the guinea pig protein. ..
- Wistow G, Graham C. The duck gene for alpha B-crystallin shows evolutionary conservation of discrete promoter elements but lacks heat and osmotic shock response. Biochim Biophys Acta. 1995;1263:105-13 pubmed..Thus, although high expression in lens is common to alpha B-crystallin genes in birds and mammals, other modes of expression appear to be taxon-specific. ..
- Chambers C, Russell P. Sequence of the human lens beta B2-crystallin-encoding cDNA. Gene. 1993;133:295-9 pubmed..It codes for a 23-kDa protein of 205 amino acid residues. Comparison of the overall nt and deduced aa sequences shows a greater similarity of h beta B2-cry to bovine beta B2-cry than to m beta B2-cry or rat beta B2-cry. ..
- Gopal Srivastava R, Piatigorsky J. Identification of a lens-specific regulatory region (LSR) of the murine alpha B-crystallin gene. Nucleic Acids Res. 1994;22:1281-6 pubmed
- Piatigorsky J, Norman B, Dishaw L, Kos L, Horwitz J, Steinbach P, et al. J3-crystallin of the jellyfish lens: similarity to saposins. Proc Natl Acad Sci U S A. 2001;98:12362-7 pubmed
- Brady J, Piatigorsky J. Cloning and characterization of a novel zinc-finger protein-encoding cDNA from the mouse eye lens. Gene. 1993;124:207-14 pubmed..The stably transformed cells did not differ in appearance from untransformed cells, and an analysis of proteins from transformed and untransformed cells failed to detect any differences resulting from over-expression of the pMLZ-4 mRNA. ..