Genomic organization of Ampd3, heart-type AMPD gene, located in mouse Chromosome 7

AMP deaminase (AMPD) catalyzes AMP to IMP and plays an important role in energy charge and nucleotide metabolism. Human AMPD3 deficiency is a type of erythrocyte-specific enzyme deficiency found in individuals without clinical symptoms, although an increased level of ATP in erythrocytes has been reported. To better understand the physiological and pathological roles of AMPD3 deficiency, we established a line of AMPD3-deficient [A3(À/À)] mice. No AMPD activity and a high level of ATP were observed in erythrocytes of these mice, similar to human RBC-AMPD3 deficiency, while other characteristics were unremarkable. Next, we created AMPD3 and pyruvate kinase (PK) double-deficient [PKA(À/À,À/À)] mice by mating A3(À/À) mice with CBA-Pk-1slc/Pk-1slc mice [PK(À/À)], a spontaneous PK-deficient strain showing hemolytic anemia. In PKA(À/À,À/À) mice, the level of ATP in red blood cells was increased 1.5 times as compared to PK(À/À) mice, although hemolytic anemia in those animals was not improved. In addition, we observed osmotic fragility of erythrocytes in A3(À/À) mice under fasting conditions. In contrast, the ATP level in erythrocytes was elevated in A3(À/À) mice as compared to the control. In conclusion, AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to PK deficiency and leads to erythrocyte dysfunction.

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“…In mammals, AMPD has tissue‐specific isoforms encoded by 3 genes (Sermsuvitayawong et al . ; Hellsten et al . ; Szydlowska et al .…”

Section: Introductionmentioning

confidence: 99%

AMPD3‐deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency

et al. 2012

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“…2B). DNA sequencing analysis revealed that L5B1 (476 nt) was identical to the 3Ј untranslated region of exon 15 of mouse AMPD3 (heart-type) gene (26,27) (Fig. 2C).…”

Section: Ampd3 Gene and Its Product Are Up-regulated In Reperfusion-imentioning

confidence: 99%

IMP and AMP deaminase in reperfusion injury down-regulates neutrophil recruitment

Qiu

Wada

Stahl

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

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We examined gene regulation in murine lungs after hind-limb vessel occlusion and reperfusion. A rapid increase of transcript for the AMP deaminase 3 gene (AMPD3) and its enzymatic activity (EC 3.5.4.6) generating inosine monophosphate (IMP) were identified with transcripts located in bronchial and alveolar epithelium. AMP deaminase inhibitor decreased IMP levels and significantly enhanced neutrophil recruitment within lung tissue during reperfusion. In addition, IMP inhibited cytokine-initiated neutrophil infiltration in vivo and selectively attenuated neutrophil rolling by 90% in microvessels. We prepared labeled IMP and demonstrated that IMP specifically binds to neutrophils. IMP also stimulated binding of ␥-[ 35 S]thio-GTP, suggesting that IMP is a potent regulator of neutrophils. Taken together, these results elucidate a previously unrecognized mechanism that protects tissues from the potentially deleterious consequences of aberrant neutrophil accumulation. Moreover, they are relevant for new therapeutic approaches to regulate neutrophil responses in inflammation and vascular disease.

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“…The closest marker is BMS2684 with a LOD score of 12.991, and a distance of 19.6 cR. The AMPD3 gene is located on chromosome 11p15 in human ( Mahnke‐Zizelman et al 1996) and on chromosome 7 in mouse ( Sermsuvitayawong et al. 1997).…”

Section: Resultsmentioning

confidence: 99%

Differential transcription of the bovine AMPD3 gene in single blastocysts cultured under various oxygen tensions

Yuan

Peelman

Williams

et al. 2004

J Animal Breeding Genetics

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Studying gene expression during the early embryonic stages of in vitro culture is essential and of special interest, not only to gain insights in embryo development but also to find candidate genes that can be used as markers to assess embryo quality. Using differential display RT-PCR expression of AMPD3 coding for AMP deaminase 3 was found in bovine blastocysts cultured in vitro only under 2% but not under 5 and 20% oxygen tensions. Mapping of this gene to bovine chromosome 15 confirmed its identity. The differential expression of bovine AMPD3 was confirmed by RT-PCR with specific primers.

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Genomic organization of Ampd3, heart-type AMPD gene, located in mouse Chromosome 7

Cited by 6 publications

References 13 publications

AMPD3‐deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency

AMPD3‐deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency

IMP and AMP deaminase in reperfusion injury down-regulates neutrophil recruitment

Differential transcription of the bovine AMPD3 gene in single blastocysts cultured under various oxygen tensions

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