N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Lewis, Susan E.; Erickson, Robert P.; Barnett, Lois B.; Venta, Patrick J.; Tashian, Richard E.

doi:10.1073/pnas.85.6.1962

Cited by 141 publications

(94 citation statements)

References 26 publications

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“…Our immunostaining demonstrated positivity in all chromophobe RCC (10/10) and oncocytomas (5/5). Several studies have looked at its expression in kidney as well as the phenotypes in CAII-null mice, but its role in RCC is yet to be elucidated (Brechue et al, 1991;Lai et al, 1998;Lewis et al 1988). Interestingly, the profiles we found for this group of tumors are similar to those previously described (Young et al, 2001).…”

Section: Discussionsupporting

confidence: 73%

Molecular subclassification of kidney tumors and the discovery of new diagnostic markers

et al. 2003

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We analysed the expression profiles of 70 kidney tumors of different histological subtypes to determine if these subgroups can be distinguished by their gene expression profiles, and to gain insights into the molecular mechanisms underlying each subtype. In all, 39 clear cell renal cell carcinomas (RCC), seven primary and one metastatic papillary RCC, six granular RCC from old classification, five chromophobe RCC, five sarcomatoid RCC, two oncocytomas, three transitional cell carcinomas (TCC) of the renal pelvis and five Wilms' tumors were compared with noncancerous kidney tissues using microarrays containing 19 968 cDNAs. Based on global gene clustering of 3560 selected cDNAs, we found distinct molecular signatures in clear cell, papillary, chromophobe RCC/ oncocytoma, TCC and Wilms' subtypes. The close clustering in each of these subtypes points to different tumorigenic pathways as reflected by their histological characteristics. In the clear cell RCC clustering, two subgroups emerged that correlated with clinical outcomes, confirming the potential use of gene expression signatures as a predictor of survival. In the so-called granular cell RCC (terminology for a subtype that is no longer preferred), none of the six cases clusters together, supporting the current view that they do not represent a single entity. Blinded histological re-evaluation of four cases of 'granular RCC' led to their reassignment to other existing histological subtypes, each compatible with our molecular classification. Finally, we found gene sets specific to each subtype. In order to establish the use of some of these genes as novel subtype markers, we selected four genes and performed immunohistochemical analysis on 40 cases of primary kidney tumors. The results were consistent with the gene expression microarray data: glutathione S-transferase a was highly expressed in clear cell RCC, a methylacyl racemase in papillary RCC, carbonic anhydrase II in chromophobe RCC and K19 in TCC. In conclusion, we demonstrated that molecular profiles of kidney cancers closely correlated with their histological subtypes. We have also identified in these subtypes differentially expressed genes that could have important diagnostic and therapeutic implications.

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Section: Discussionsupporting

confidence: 73%

Molecular subclassification of kidney tumors and the discovery of new diagnostic markers

et al. 2003

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“…Another approach is to develop and analyze knockout mouse models deficient in one CA isozyme. To date, two such mouse colonies with CA deficiency have been reported: CA II-deficient mice produced by chemical mutagenesis (Lewis et al, 1988) and CA IXdeficient mice developed by targeted mutagenesis and homologous recombination (Ortova Gut et al, 2002). Extrapolating from the present findings, physiological studies of renal and colonic function in CA XII-deficient mice should be quite interesting.…”

Section: Discussionmentioning

confidence: 53%

Expression of hypoxia‐inducible, membrane‐bound carbonic anhydrase isozyme XII in mouse tissues

et al. 2004

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Carbonic anhydrase (CA) XII is a membrane-associated enzyme that has been demonstrated to be normally expressed in some human tissues, to be upregulated in some cancers, and to be a hypoxia-inducible gene product. In mouse, CA XII has been recently localized in the kidney. In the present study, we investigated CA XII gene and protein expression in other mouse tissues, with the kidney serving as a positive control for the reagents. The expression of CA XII mRNA was examined using polymerase chain reaction (PCR) amplification of commercial cDNAs produced from selected mouse tissues. A strong positive signal for CA XII mRNA was detected in the kidney, and weak signals were obtained in the testis and lung. Heart, spleen, liver, and skeletal muscle were negative. Immunohistochemical staining was performed using a mouse CA XII-specific antibody and biotin-streptavidin complex method. The results showed high expression of CA XII in the kidney, as expected. It was also highly expressed in the surface epithelial cells of the colon, whereas it was absent in the stomach, proximal small intestine, pancreas, liver, heart, and skeletal muscle. The maturing sperm cells showed a weak staining in a pattern that most probably indicates expression in the developing acrosomal membrane. The high expression in the kidney and colon suggests a role for CA XII in the maintenance of body ion and pH homeostasis in the mouse. However, the present findings demonstrated that CA XII has a very limited distribution in mouse tissues outside these two organs. Anat Rec Part A 277A: 171-177, 2004.

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“…Once the regulation of the CA II gene is understood in HL-60 cells, critical experiments can be designed to examine its regulation in limited amounts of purified osteoclasts. In addition, the results obtained may be useful for developing a successful gene replacement therapy of the recently described CA II-deficient mouse model [4].…”

Section: Discussionmentioning

confidence: 96%

“…In mammals, the CA isozymes are coded by at least seven genes, designated CA I-CA VII, which in general have different tissue specificities and probably varying physiological roles [2]. In humans, an inherited deficiency of CA II (CA II deficiency syndrome) is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcification [3] and in mice by renal tubular acidosis [4] and vascular calcifications [5]. The osteopetrosis in CA II deficiency syndrome is an osteoclast-specific defect as shown by two lines of evidence.…”

Section: Introductionmentioning

confidence: 99%

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D₃: A model for osteoclast gene regulation

Shapiro

Venta

et al. 1989

FEBS Letters

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Carbonic anhydrase II (CA II) generates the H ÷ required for osteoelast-mediated bone resorption in humans. We have developed the human promyelocytic cell line HL-60 as a model system with which to study the osteoclast-specific expression of the CA II gene. Treatment of the cell line with 1,25-dihydroxyvitamin D 3 resulted in a dramatic de novo induction of CA II at both the protein and mRNA levels. CA II mRNA was also induced to a lesser extent by 12-O-tetradecanoyl phorbol 13-acetate. Treatment with dimethyl sulfoxide did not increase CA II mRNA. These findings indicate that the HL-60 cell line will be a useful model system to study the osteoclast-speeific expression of the CA II gene.Carbonic anhydrase II; Osteoclast; Dihydroxyvitamin D3, 1,25-; (HL-60 cell)

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N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Abstract: Electrophoretic screening of (C57BL/6J x

Cited by 141 publications

References 26 publications

Molecular subclassification of kidney tumors and the discovery of new diagnostic markers

Molecular subclassification of kidney tumors and the discovery of new diagnostic markers

Expression of hypoxia‐inducible, membrane‐bound carbonic anhydrase isozyme XII in mouse tissues

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D₃: A model for osteoclast gene regulation

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N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.

Abstract: Electrophoretic screening of (C57BL/6J x

Cited by 141 publications

References 26 publications

Molecular subclassification of kidney tumors and the discovery of new diagnostic markers

Molecular subclassification of kidney tumors and the discovery of new diagnostic markers

Expression of hypoxia‐inducible, membrane‐bound carbonic anhydrase isozyme XII in mouse tissues

Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D3: A model for osteoclast gene regulation

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Carbonic anhydrase II is induced in HL‐60 cells by 1,25‐dihydroxyvitamin D₃: A model for osteoclast gene regulation