Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates

Parreira, Bruna; Cardoso, João C. R.; Costa, Rita A.; Couto, Ana Rita; Bruges-Armas, Jácome; Power, Deborah M.

doi:10.1038/s41598-018-24370-7

Cited by 7 publications

(11 citation statements)

References 79 publications

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“…The ABCC6 -transfected cells showed low resistance to etoposide, teniposide, doxorubicin, and daunorubicin [ 99 ]. ABCC6 is known to be involved in the regulation of tissue calcification in mammals [ 100 ]. It is primarily expressed in the liver and the kidneys, lower levels have been found in lung, intestines, retina, skin, and vessel walls [ 101 ].…”

Section: Structure Function Expression and Gene Regulation Of Amentioning

confidence: 99%

Aberrant DNA Methylation of ABC Transporters in Cancer

Zappe

Cichna‐Markl

2020

Cells

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ATP-binding cassette (ABC) transporters play a crucial role in multidrug resistance (MDR) of cancers. They function as efflux pumps, resulting in limited effectiveness or even failure of therapy. Increasing evidence suggests that ABC transporters are also involved in tumor initiation, progression, and metastasis. Tumors frequently show multiple genetic and epigenetic abnormalities, including changes in histone modification and DNA methylation. Alterations in the DNA methylation status of ABC transporters have been reported for a variety of cancer types. In this review, we outline the current knowledge of DNA methylation of ABC transporters in cancer. We give a brief introduction to structure, function, and gene regulation of ABC transporters that have already been investigated for their DNA methylation status in cancer. After giving an overview of the applied methodologies and the CpGs analyzed, we summarize and discuss the findings on aberrant DNA methylation of ABC transporters by cancer types. We conclude our review with the discussion of the potential to target aberrant DNA methylation of ABC transporters for cancer therapy.

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Section: Structure Function Expression and Gene Regulation Of Amentioning

confidence: 99%

Aberrant DNA Methylation of ABC Transporters in Cancer

Zappe

Cichna‐Markl

2020

Cells

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“…Pyrophosphate broken down from ATP functions as an inhibitor of the production of hydroxyapatite crystals and regulates calcification and mineralization. [ 16 , 26 ] The mutation of ADCC6 gene has thus…”

Section: Discussionmentioning

confidence: 99%

Profile of genetic variations in severely calcified carotid plaques by whole-exome sequencing

Katano

Nishikawa

Yamada

et al. 2020

Surgical Neurology International

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Background: The precise mechanisms of carotid calcification and its clinical significance have not been established. Methods: We classified ten plaques from carotid endarterectomy patients into high- and low-calcified plaques based on the Agatston calcium scores. We performed whole-exome sequencing for genetic profiles with single nucleotide variations (SNVs), insertions, and deletions. Bioinformatic data mining was then conducted to disclose specific gene variations to either high- or low-calcified carotid plaques. Results: In the carotid plaques, G:C>A:T/C:G>T:A transitions as SNVs, insT after C/insC after A as insertions, and delA after G/delT after C as deletions were most frequently observed, but no significant difference was observed between the high- and low-calcified plaque groups in their proportion of base-pair substitution types. In the bioinformatic analysis, SNVs of ATP binding cassette subfamily C member 6 (ADCC6) were more commonly found in high-calcified plaques and SNVs of KLKB1 were more commonly found in low-calcified plaques compared to the other group. No new genetic variants related to calcification or atherosclerosis among those not registered in dbSNP was detected. Conclusion: Our findings clarified the features of base-pair substitutions in carotid plaques, showing no relation to calcification. However, genetic variants in ADCC6 relating to vascular calcification for high-calcified plaques, and in KLKB1 encoding kallikrein associated with vascular regulation of atherosclerosis for low-calcified plaques were more specifically extracted. These results contribute to a better understanding of the genetic basis of molecular activity and calcium formation in carotid plaques.

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“…4a) 54,89,90 . Finally, identifying native substrates of multidrug exporters 91 will improve our understanding of these transporters as pharmacological targets.…”

Section: Pharmacology Of Abc Transportersmentioning

confidence: 99%

Mechanics and pharmacology of substrate selection and transport by eukaryotic ABC exporters

Srikant

Gaudet

2019

Nat Struct Mol Biol

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We have amassed much structural information on ABC transporters, with hundreds of structures including isolated domains and an increasing array of full-length transporters. The structures captured different steps in the transport cycle and helped design and interpret computational simulations and biophysics experiments. These data provide a maturing, although still incomplete, elucidation of the protein dynamics and mechanisms of substrate selection and transit through the transporters. We present an updated view of the classical alternating access mechanism as it applies to eukaryotic ABC transporters, focusing on type I exporters. Our model helps frame the progress and remaining questions about transporter energetics, how substrates are selected, and ATP is consumed to perform work at the molecular scale. Many human ABC transporters are associated with disease; we highlight progress in understanding their pharmacology from the lens of structural biology, and how this knowledge suggests approaches to pharmacologically targeting these transporters.

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Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates

Cited by 7 publications

References 79 publications

Aberrant DNA Methylation of ABC Transporters in Cancer

Aberrant DNA Methylation of ABC Transporters in Cancer

Profile of genetic variations in severely calcified carotid plaques by whole-exome sequencing

Mechanics and pharmacology of substrate selection and transport by eukaryotic ABC exporters

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