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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genetic basis of hemolytic anemia caused by pyrimidine 5′ nucleotidase deficiency
Blood, Volume 97, No. 11, Year 2001
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Description
Pyrimidine 5′ nucleotidase (P5′N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. Recently, a protein with P5′N-1 activity was analyzed and a provisional complementary DNA (cDNA) sequence published. This sequence was used to study 3 families with P5′N-1 deficiency. This approach generated a genomic DNA sequence that was used to search GenBank and identify the gene for P5′N-1. It is found on chromosome 7, consists of 10 exons with alternative splicing of exon 2, and produces proteins 286 and 297 amino acids long. Three homozygous mutations were identified in this gene in 4 subjects with P5′N-1 deficiency: codon 98 GAT→GTT, Asp→Val (linked to a silent polymorphism codon 92, TAC→TAT), codon 177, CAA→TAA, Gln→termination, and IVS9-1, G→T. The latter mutation results in the loss of exon 9 (201 bp) from the cDNA. None of these mutations was found in 100 normal controls. The DNA analysis was complicated by P5′N-1 pseudogenes found on chromosomes 4 and 7. This study is the first description of the structure and location of the P5′N-1 gene, and 3 mutations have been identified in affected patients from separate kindreds. © 2001 by The American Society of Hematology.
Authors & Co-Authors
Marinaki, Anthony Marin
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Escuredo, Emilia
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Duley, John A.
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Anne Simmonds, H.
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Amici, Adolfo
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Naponelli, Valeria
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Magni, Giulio
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Seip, Martin
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Ben-Bassat, Isaac
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Harley, Eric H.
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Thein, Swee Lay
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Rees, David C.
United Kingdom, London
Guy's Hospital
United Kingdom, London
King's College Hospital
United Kingdom, Sheffield
Royal Hallamshire Hospital
Italy, Ancona
Università Politecnica Delle Marche
Norway, Oslo
Rikshospitalet-radiumhospitalet hf
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
South Africa, Cape Town
University of Cape Town
Statistics
Citations: 61
Authors: 12
Affiliations: 7
Identifiers
Doi:
10.1182/blood.V97.11.3327
ISSN:
00064971
Research Areas
Cancer
Genetics And Genomics