title: Stomatocytosis is absent in "stomatin"-deficient murine red blood cells.
abstract: To examine the relationship between erythrocyte membrane protein 7. 2b deficiency and the hemolytic anemia of human hereditary stomatocytosis, we created 7.2b knock-out mice by standard gene targeting approaches. Immunoblots showed that homozygous knock-out mice completely lacked erythrocyte protein 7.2b. Despite the absence of protein 7.2b, there was no hemolytic anemia and mouse red blood cells (RBCs) were normal in morphology, cell indices, hydration status, monovalent cation content, and ability to translocate lipids. The absence of the phenotype of hereditary stomatocytosis implies that protein 7.2b deficiency plays no direct role in the etiology of this disorder and casts doubt on the previously proposed role of this protein as a mediator of cation transport in RBC.
authors: Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
authors: Y
authors: Y
authors: Zhu
authors: C
authors: C
authors: Paszty
authors: T
authors: T
authors: Turetsky
authors: S
authors: S
authors: Tsai
authors: F A
authors: FA
authors: Kuypers
authors: G
authors: G
authors: Lee
authors: P
authors: P
authors: Cooper
authors: P G
authors: PG
authors: Gallagher
authors: M E
authors: ME
authors: Stevens
authors: E
authors: E
authors: Rubin
authors: N
authors: N
authors: Mohandas
authors: W C
authors: WC
authors: Mentzer
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics / Q000473:pathology; D000818:Animals; D001798:Blood Proteins / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D002352:Carrier Proteins / Q000097:blood; D002412:Cations / Q000097:blood*; D004907:Erythrocyte Deformability; D004909:Erythrocyte Indices; D004910:Erythrocyte Membrane / Q000378:metabolism / Q000648:ultrastructure; D004913:Erythrocytes, Abnormal / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005838:Genotype; D006801:Humans; D017136:Ion Transport; D008297:Male; D008560:Membrane Fluidity; D008565:Membrane Proteins / Q000097:blood; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D010641:Phenotype; D010718:Phosphatidylserines / Q000378:metabolism; D049294:Phospholipid Transfer Proteins; D011188:Potassium / Q000097:blood; D012964:Sodium / Q000097:blood
chemical_list: D001798:Blood Proteins; D002352:Carrier Proteins; D002412:Cations; C488964:Stom protein, mouse; D008565:Membrane Proteins; D010718:Phosphatidylserines; D049294:Phospholipid Transfer Proteins; C036860:STOM protein, human; D012964:Sodium; D011188:Potassium