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PubMedDate not supplied

Ultrastructural abnormalities of bone marrow erythroblasts in refractory anemia.

Ultrastructural abnormalities of erythroblasts in 30 patients with refractory anemia (RA) according to FAB classification were studied. Nuclear clefts, iron-laden mitochondria, and myelin figures in cytoplasm were most frequently observed. Eleven patients (36.7%) with nuclear clefts of erythroblasts had a higher platelet count and higher incidence of cytogenetic abnormalities linked to poor prognosis than the patients without nuclear clefts. They also had a higher frequency of leukemic transformation and shorter survival than the patients without nuclear clefts. The nuclear clefts of erythroblasts, which are the result of impairment of DNA metabolism or nuclear formation and fusion during mitosis, may be one of the adverse prognostic factors for patients with RA.

Adolescent↗
PubMed2005

Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.

Genes playing essential roles in iron homeostasis have yet to be identified. We report the discovery of a strong candidate gene affecting iron homeostasis in two allelic anemia mouse mutants: hea (hereditary erythroblastic anemia) and fsn (flaky skin). To clone this novel gene positionally, we established a large backcross, which generated a critical region of seven genes from which only one gene exhibited a mutation in hea mice. This was a deletion in Ttc7 (tetratricopeptide repeat domain 7) extending from exon 1 to exon 14. Correspondingly, the allelic variant fsn mice showed a mutation of an ETn retrotransposon integration into intron 14 of the Ttc7 gene, which results in an abnormal Ttc7 RNA transcript. TTC7 is a member of the TPR repeat protein family known to interact with other proteins, to facilitate transport, and to act as chaperone or scaffolding proteins. We speculate that TTC7 plays an important role in iron transport.

Amino Acid Sequence↗
PubMed2003

Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency.

Most eukaryotic cell types use a common program to regulate the process of cell division. During mitosis, successful partitioning of the genetic material depends on spatially coordinated chromosome movement and cell cleavage. Here we characterize a zebrafish mutant, retsina (ret), that exhibits an erythroid-specific defect in cell division with marked dyserythropoiesis similar to human congenital dyserythropoietic anemia. Erythroblasts from ret fish show binuclearity and undergo apoptosis due to a failure in the completion of chromosome segregation and cytokinesis. Through positional cloning, we show that the ret mutation is in a gene (slc4a1) encoding the anion exchanger 1 (also called band 3 and AE1), an erythroid-specific cytoskeletal protein. We further show an association between deficiency in Slc4a1 and mitotic defects in the mouse. Rescue experiments in ret zebrafish embryos expressing transgenic slc4a1 with a variety of mutations show that the requirement for band 3 in normal erythroid mitosis is mediated through its protein 4.1R-binding domains. Our report establishes an evolutionarily conserved role for band 3 in erythroid-specific cell division and illustrates the concept of cell-specific adaptation for mitosis.

Amino Acid Sequence↗
PubMed1990

Cytogenetics of three cases of ANLL M2 and M4. Involvement of chromosomal region 8q22 in all three but 21q22 in only one.

Cytogenetic investigation of the bone marrow of two patients with acute nonlymphocytic leukemia (ANLL), French-American-British Cooperative group (FAB) classification M2, revealed a translocation (8;22)(q22.1;q13.3), without involving chromosome 21, and a variant translocation (8;21)(q22;q22). These findings, together with a del(8)(q22) found in a patient with refractory anemia, erythroblastic (RAEB)-t with progression to acute myelogenous leukemia (AML)-M4, are discussed in relation to the possible role of abnormalities of chromosomes 8 and 21 in the oncogenesis of ANLL M2 and M4.

Child, Preschool↗