title: Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.
abstract: The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets and lymphocytes is consistent with a defect that affects early hematopoietic precursors. We isolated CD34+ hematopoietic progenitor cells collected from obligate carriers of WAS by apheresis and used polymerase chain reaction analysis of a polymorphic variable number of repeats (VNTR) within the X-linked androgen receptor to document nonrandom inactivation. These data show that nonrandom inactivation of the X-chromosome in WAS-obligate carriers occurs early during hematopoietic differentiation.
authors.affiliation: Center for Blood Research, Children's Hospital, Boston, MA, USA.
authors.forename: G
authors.initials: G
authors.lastname: Wengler
authors.forename: J B
authors.initials: JB
authors.lastname: Gorlin
authors.forename: J M
authors.initials: JM
authors.lastname: Williamson
authors.forename: F S
authors.initials: FS
authors.lastname: Rosen
authors.forename: D H
authors.initials: DH
authors.lastname: Bing
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D018952:Antigens, CD34; D001483:Base Sequence; D001773:Blood Cells / Q000648:ultrastructure*; D004303:Dosage Compensation, Genetic; D005260:Female; D006412:Hematopoietic Stem Cells / Q000648:ultrastructure*; D006579:Heterozygote; D006801:Humans; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: D015703:Antigens, CD; D018952:Antigens, CD34; D011944:Receptors, Androgen