Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse

Shiels, Alan; Griffin, Carol S.

doi:10.3109/02713689309020398

Cited by 30 publications

(22 citation statements)

References 41 publications

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“…Human AQP1 and AQP2 natural mutations resulted in recessive traits (Deen et al, 1994Preston et al, 1994) whereas all of the thus far documented AQP0 mutations in human (Berry et al, 2000;Francis et al, 2000a,b;Geyer et al, 2006) and mice (Shiels and Griffin, 1993;Shiels and Bassnett, 1996;Shiels et al, 2000;Okamura et al, 2003) led to dominant lens cataract. Mutations in structural proteins cause dominant inherited traits (Francis et al, 2000a,b).…”

Section: Discussionmentioning

confidence: 99%

Functional expression of aquaporins in embryonic, postnatal, and adult mouse lenses

Varadaraj

Kumari

Mathias

2007

Developmental Dynamics

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Aquaporin 0 (AQP0) and AQP1 are expressed in the lens, each in a different cell type, and their functional roles are not thoroughly understood. Our previous study showed that these two AQPs function as water transporters. In order to further understand the functional significance of these two different aquaporins in the lens, we investigated their initiation and continued expression. AQP0 transcript and protein were first detected at embryonic stage (E) 11.25 in the differentiating primary fiber cells of the developing lens; its synthesis continued through the adult stage in the secondary fiber cells. Low levels of AQP1 expression were first seen in lens anterior epithelial cells at E17.5; following postnatal day (P) 6.5, the expression gradually progressed towards the equatorial epithelial cells. In the postnatal lens, the increase in membrane water permeability of epithelial cells and lens transparency coincides with the increase in AQP1 expression. AQP1 expression reaches its peak at P30 and continues through the adult stage both in the anterior and equatorial epithelial cells. The enhancement in AQP1 expression concomitant with the increase in the size of the lens suggests the progression in the establishment of the lens microcirculatory system. In vitro and in vivo studies show that both aquaporins share at least one important function, which is water transport in the lens microcirculatory system. However, the temporal expression of these two AQPs suggests an apparently unique role/s in lens development and transparency. To our knowledge, this is the first report on the expression patterns of AQP0 and AQP1 during lens development and differentiation and their relation to lens transparency. Developmental Dynamics 236:1319 -1328, 2007.

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Section: Discussionmentioning

confidence: 99%

Functional expression of aquaporins in embryonic, postnatal, and adult mouse lenses

Varadaraj

Kumari

Mathias

2007

Developmental Dynamics

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“…AQP 0/MIP28 was isolated from lens epithelium. Absence of normal AQP 0 protein is linked to cataract formation in mutant mice (Shiels & Griffin 1993). AQP 1/channel forming integral membrane protein (CHIP)-28 is the most ubiquitous of the AQP family and is expressed in a number of organs and tissues (Echvarria et al, 1994;Heymann et al, 1998;Yang et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

mRNAs encoding aquaporins are present during murine preimplantation development

et al. 2000

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The present study was conducted to investigate the mechanisms underlying fluid movement across the trophectoderm during blastocyst formation by determining whether aquaporins (AQPs) are expressed during early mammalian development. AQPs belong to a family of major intrinsic membrane proteins and function as molecular water channels that allow water to flow rapidly across plasma membranes in the direction of osmotic gradients. Ten different AQPs have been identified to date. Murine preimplantation stage embryos were flushed from the oviducts and uteri of superovulated CD1 mice. Reverse transcription–polymerase chain reaction (RT‐PCR) methods employing primer sets designed to amplify conserved sequences of AQPs (1–9) were applied to murine embryo cDNA samples. PCR reactions were conducted for up to 40 cycles involving denaturation of DNA hybrids at 95°C, primer annealing at 52–60°C and extension at 72°C. PCR products were separated on 2% agarose gels and were stained with ethidium bromide. AQP PCR product identity was confirmed by sequence analysis. mRNAs encoding AQPs 1, 3, 5, 6, 7, and 9 were detected in murine embryos from the one‐cell stage up to the blastocyst stage. AQP 8 mRNAs were not detected in early cleavage stages but were present in morula and blastocyst stage embryos. The results were confirmed in experimental replicates applied to separate embryo pools of each embryo stage. These results demonstrate that transcripts encoding seven AQP gene products are detectable during murine preimplantation development. These findings predict that AQPs may function as conduits for trophectoderm fluid transport during blastocyst formation. Mol. Reprod. Dev. 57:323–330, 2000. © 2000 Wiley‐Liss, Inc.

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“…Mip forms specialized junctions between the fiber cells and can be first detected in the primary fiber cells of the early lens vesicle. In situ hybridization demonstrated that Mip expression is highest in the elongating fiber cells in the bow region of the lens; Mip antiserum specifically decorates fiber cell membranes, highlighting their regular anterior to posterior organization (Shiels and Griffin, 1993;Zhou et al, 2002). Mip is also referred to aquaporin; a recent review was published by Agre and Kozono (2003) …”

Section: Aquaporin/mipmentioning

confidence: 99%

“…Sequence analysis revealed that the Cat Fr mutation is due to a transposon-induced splicing error leading to a truncated form of Mip transcripts. However, the mutation in the Cat Lop leads to a single amino-acid substitution, which inhibits targeting of Mip to the cell membrane (Shiels and Griffin, 1993;Shiels and Bassnett, 1996). Recently, a new mutant allele (Cat Tohm ) was reported, which is characterized by a 12 bp deletion and a corresponding loss of 4 amino acids within the second transmembrane region (Okamura et al, 2003).…”

Section: Aquaporin/mipmentioning

confidence: 99%

Congenital hereditary cataracts

Graw¹

2004

Int. J. Dev. Biol.

126

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Congenital cataracts are rare and occur in developed countries with a frequency of 30 cases among 100,000 births with a further 10 cases being diagnosed during childhood. They reflect mainly genetically caused developmental alterations in the lens and surrounding ocular tissues. Even if modern Human Genetics has made large steps forward in the characterization of human hereditary disorders, the underlying developmental processes can only be investigated in model organisms. The mouse is such a good model because of its similarity (as a mammal) and its genetic characterization. This review brings together our genetic and developmental knowledge of congenital, human cataracts with the corresponding mouse models. First, early events will be influenced by genes coding for transcription factors like Pax6, Pitx3, Maf or Sox. If the lens is maturing, mutations affecting the lens membranes (aquaporins/Mip, Lim-2 or connexins) or the structural proteins of the cytosol of the lens fiber cells (the crystallins) become more important. From a genetic point of view it becomes obvious that cataract-causing mutations are not distributed randomly. The discovery of a broad variety of genes important for eye and lens development made much progress in the recent years. Nevertheless, there still remains a long list of mutations to be characterized and functionally investigated both in mouse and man indicating a broad genetic heterogeneity in that which clinicians simply refer to as a "cataract".

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Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse

Cited by 30 publications

References 41 publications

Functional expression of aquaporins in embryonic, postnatal, and adult mouse lenses

Functional expression of aquaporins in embryonic, postnatal, and adult mouse lenses

mRNAs encoding aquaporins are present during murine preimplantation development

Congenital hereditary cataracts

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