Single amino Acid substitution in aquaporin 11 causes renal failure.

Single amino Acid substitution in aquaporin 11 causes renal failure. Research Abstract Details 

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Single amino Acid substitution in aquaporin 11 causes renal failure. Abstract Text:

A screen of recessive mutations generated by the chemical mutagen n-ethyl-n-nitrosourea (ENU) mapped a new mutant locus (5772SB) termed sudden juvenile death syndrome (sjds) to chromosome 7 in mice. These mutant mice, which exhibit severe proximal tubule injury and formation of giant vacuoles in the renal cortex, die from renal failure, a phenotype that resembles aquaporin 11 (Aqp11) knockout mice. In this report, the ENU-induced single-nucleotide variant (sjds mutation) is identified. To determine whether this variant, which causes an amino acid substitution (Cys227Ser) in the predicted E-loop region of aquaporin 11, is responsible for the sjds lethal renal phenotype, Aqp11(-/sjds) compound heterozygous mice were generated from Aqp11(+/sjds) and Aqp11(+/-) intercrosses. The compound heterozygous Aqp11(-/sjds) offspring exhibited a lethal renal phenotype (renal failure by 2 wk), similar to the Aqp11(sjds/sjds) and Aqp11(-/-) phenotypes. These results demonstrate that the identified mutation causes renal failure in Aqp11(sjds/sjds) mutant mice, providing a model for better understanding of the structure and function of aquaporin 11 in renal physiology.

Single amino Acid substitution in aquaporin 11 causes renal failure. Publishing Authors By Initials

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Single amino Acid substitution in aquaporin 11 causes renal failure. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of the American Society of Nephrology : JA

VOLUME: 19

Page Numbers: 1955-64

Journal Abbreviation: J. Am. Soc. Nephrol.

ISSN: 1533-3450

DAY: 13

MONTH: 08

YEAR: 2008

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LANGUAGE: eng

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Grant and Affiliation Information for Single amino Acid substitution in aquaporin 11 causes renal failure.

AFFILIATION: Division of Nephrology and Hypertension, Vanderbilt University Medical Center, 21st Avenue So. at Garland, Nashville, TN 37232. elena.tchekneva@vanderbilt.edu.

Country: United States

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MEDLINETA: J Am Soc Nephrol

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