2004
DOI: 10.1111/j.1365-2141.2004.05029.x
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Molecular basis of Japanese variants of pyrimidine 5′‐nucleotidase deficiency

Abstract: Summary The type‐I isoform of pyrimidine 5′‐nucleotidase (P5N‐I) has an important role in the catabolism of pyrimidine mononucleotides during erythroid maturation. Two alternatively spliced forms of P5N‐I mRNA have been identified, and we found another alternatively spliced form in reticulocytes, which included an additional 87‐bp sequence. The sequence is located 6·2‐kb downstream of the exon 2 and 2·7‐kb upstream of the exon 3 sequence; consequently, the P5N‐I gene encodes 11 exons, which span approximately … Show more

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Cited by 23 publications
(29 citation statements)
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“…Surprisingly, however, patients affected by the mutations L131P and G230S show only moderate alterations in enzyme activity of their red blood cells (Table 1) despite the substantial changes in the kinetic and thermostability parameters. A similar picture has been obtained for other mutations affecting P5ЈN-1, such as frameshift or nonsense mutations, 7,11,21 that are expected to lead to aberrant proteins likely to lack enzymatic activity. Thus, it appears that reductions in P5ЈN-1 activity caused by mutations can be compensated.…”
Section: Molecular Basis Of Nonspherocytic Hemolytic Anemiasupporting
confidence: 69%
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“…Surprisingly, however, patients affected by the mutations L131P and G230S show only moderate alterations in enzyme activity of their red blood cells (Table 1) despite the substantial changes in the kinetic and thermostability parameters. A similar picture has been obtained for other mutations affecting P5ЈN-1, such as frameshift or nonsense mutations, 7,11,21 that are expected to lead to aberrant proteins likely to lack enzymatic activity. Thus, it appears that reductions in P5ЈN-1 activity caused by mutations can be compensated.…”
Section: Molecular Basis Of Nonspherocytic Hemolytic Anemiasupporting
confidence: 69%
“…7 This mutant evidenced a drastic decay in the catalytic activity and a significant reduction in the thermostability. Clearly, position 230 cannot tolerate the large and charged arginine side chain.…”
Section: G230r Mutant Formmentioning
confidence: 96%
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“…Similar although less pronounced accumulation of pyrimidine nucleotides may occur during severe lead poisoning (11). Four distinct missense mutations in hP5N-1 have been found in patients with NHA: D98V, L142P, N190S, and G241R (17)(18)(19)(20).…”
mentioning
confidence: 99%