Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia.
Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia. Previous studies indicate that mutations of a gene on chromosome 19q13.2, which encodes a ribosomal protein, are responsible for 25% of cases. Recent investigations suggest both the presence of a second candidate region on chromosome 8p and non-19q, non-8p disease. In linkage analysis studies of 28 multiplex DBA families, we identified 8 families with disease linkage to chromosome 1q31. In 4 families, the disease linked exclusively to 1q31. Here, we report that the FLVCR gene on 1q31, which encodes a cytoplasmic heme exporter associated with red cell aplasia in cats, is not involved in DBA in these families.
Department of Medicine, Division of Hematology, University of Washington, Seattle, WA 98195-7710, USA.
John G
JG
Quigley
Hanna
H
Gazda
Zhantao
Z
Yang
Sarah
S
Ball
Colin A
CA
Sieff
Janis L
JL
Abkowitz
D020413:3' Untranslated Regions; D029503:Anemia, Diamond-Blackfan / Q000209:etiology / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D005192:Family Health; D008040:Genetic Linkage; D006418:Heme / Q000378:metabolism; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D010375:Pedigree; D017354:Point Mutation; D011991:Receptors, Virus / Q000235:genetics* / Q000378:metabolism / Q000502:physiology
D020413:3' Untranslated Regions; C492690:FLVCR1 protein, human; D026901:Membrane Transport Proteins; D011991:Receptors, Virus; D006418:Heme