The structure, expression, and evolution of the crystallin genes of vertebrates and invertebrates are being studied. The following advances have been made. Pax-6 activates the chicken and mouse ALPHA-crystallin promoter and the chicken delta1-crystallin enhancer. The chicken alphaA promoter contains a composite element that suppresses activity in fibroblas by binding USF and AP-1 proteins (JunD and Fra2) and activates promoter activity in lens by binding USF and CREB CREM proteins. USF also acts as a negative regulator of the chicken alphaA promoter by binding to another, downstream element. USF also binds to the deltaEF1 site of the chicken delta1-crystallin enhancer, where it probably contributes to the activation of this gene. CREB CREM cooperates with alphaA-CRYBP1 and Pax-6 to activate the mouse alphaA promoter in lens cells. Binding studies suggest that HSF may also be involved in chicken alphaA and mouse gammaF promoter activity. Expression of the mouse alphaB-crystallin gene in different tissues utilizes both shared and tissue-specific control elements the exact pattern being called its """"""""regulatory tissue print."""""""" Elements for lens-specific expression have been narrowed to positions -101/+30 in the chicken betaB1 gene and -143/+22 in the chicken betaBA3/A1 gene in transgenic mouse experiments. alphaA, alphaB and betaB2 were shown to be able to autophosphorylate, raising the possibility that they are involved i a signal transduction pathway. Close linkage was found for chicken betaB1 and betaA4, and evidence was obtained indicating that mammalian betaB2 is expressed in nonlens cells. A CR1 element was found in the intergenic spacer of duck delta-crystallin; the duck delta1 and delta2 polypeptides were shown to interact cooperatively to modulate argininosuccinate lyase activity of the tetramer. The jellyfish J3-crystallin gene has been cloned and shown to contain at least six introns.

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Kozmik, Zbynek; Ruzickova, Jana; Jonasova, Kristyna et al. (2008) Assembly of the cnidarian camera-type eye from vertebrate-like components. Proc Natl Acad Sci U S A 105:8989-93
Kozmik, Zbynek; Swamynathan, Shivalingappa K; Ruzickova, Jana et al. (2008) Cubozoan crystallins: evidence for convergent evolution of pax regulatory sequences. Evol Dev 10:52-61
Lassen, Natalie; Bateman, J Bronwyn; Estey, Tia et al. (2007) Multiple and additive functions of ALDH3A1 and ALDH1A1: cataract phenotype and ocular oxidative damage in Aldh3a1(-/-)/Aldh1a1(-/-) knock-out mice. J Biol Chem 282:25668-76
Kreslova, Jana; Machon, Ondrej; Ruzickova, Jana et al. (2007) Abnormal lens morphogenesis and ectopic lens formation in the absence of beta-catenin function. Genesis 45:157-68
Li, Yan; Hough, R Barry; Piatigorsky, Joram (2007) Tissue-specific activity of the blind mole rat and the two nucleotide-mutated mouse alphaB-crystallin promoter in transgenic mice. Proc Natl Acad Sci U S A 104:2608-13
Swamynathan, Shivalingappa K; Piatigorsky, Joram (2007) Regulation of the mouse alphaB-crystallin and MKBP/HspB2 promoter activities by shared and gene specific intergenic elements: the importance of context dependency. Int J Dev Biol 51:689-700
Piatigorsky, J (2006) Evolutionary genetics: seeing the light: the role of inherited developmental cascades in the origins of vertebrate lenses and their crystallins. Heredity 96:275-7
Horwitz, Joseph; Ding, Linlin; Vasiliou, Vasilis et al. (2006) Scallop lens Omega-crystallin (ALDH1A9): a novel tetrameric aldehyde dehydrogenase. Biochem Biophys Res Commun 348:1302-9
Fritzsch, Bernd; Piatigorsky, Joram (2005) Ancestry of photic and mechanic sensation? Science 308:1113-4; author reply 1113-4
Cohen, Jonathan H; Piatigorsky, Joram; Ding, Linlin et al. (2005) Vertebrate-like betagamma-crystallins in the ocular lenses of a copepod. J Comp Physiol A Neuroethol Sens Neural Behav Physiol 191:291-8

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