title: SBDS protein expression patterns in the bone marrow.
abstract: Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome caused by biallelic SBDS gene mutations. Here we examined SBDS protein levels in human bone marrow. SBDS protein expression was high in neutrophil progenitors, megakaryocytes, plasma cells, and osteoblasts. In contrast, SBDS protein levels were low in all hematopoietic cell lineages from patients harboring the common SBDS mutations. We conclude that SBDS protein levels vary widely between specific marrow lineages. Uniformly low SBDS protein expression levels distinguish the majority of SDS patients from controls or other marrow failure syndromes.
authors.affiliation: Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
authors.forename: Trisha E
authors.initials: TE
authors.lastname: Wong
authors.forename: Monica L
authors.initials: ML
authors.lastname: Calicchio
authors.forename: Mark D
authors.initials: MD
authors.lastname: Fleming
authors.forename: Akiko
authors.initials: A
authors.lastname: Shimamura
authors.forename: Marian H
authors.initials: MH
authors.lastname: Harris
mesh_terms: D001854:Bone Marrow Cells / Q000378:metabolism*; D001855:Bone Marrow Diseases / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D011506:Proteins / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome
chemical_list: D011506:Proteins; C470521:SBDS protein, human