title: Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp.
abstract: The pseudoautosomal boundaries are the interface between pseudoautosomal and sex chromosome-specific DNA sequences. We have isolated a gene, PBDX, from the human pseudoautosomal boundary region of Xp. The three exons at the 5' end of PBDX are situated in the pseudoautosomal region immediately downstream of MIC2, whereas the other seven exons are in the X-specific region. Hence, PBDX is inherited in two modes: its 5' end is pseudoautosomally inherited and its 3' end is X-linked. The predicted amino acid sequence of the 540 bp coding region is 48% homologous to 12E7, the product of MIC2. By virtue of its position, PBDX becomes an excellent candidate for the XG blood group gene.
authors.affiliation: Laboratory of Human Genetics, New York Blood Center, New York 10021.
authors.forename: N A
authors.initials: NA
authors.lastname: Ellis
authors.forename: T Z
authors.initials: TZ
authors.lastname: Ye
authors.forename: S
authors.initials: S
authors.lastname: Patton
authors.forename: J
authors.initials: J
authors.lastname: German
authors.forename: P N
authors.initials: PN
authors.lastname: Goodfellow
authors.forename: P
authors.initials: P
authors.lastname: Weller
mesh_terms: D000071443:12E7 Antigen; D000595:Amino Acid Sequence; D015703:Antigens, CD; D001483:Base Sequence; D001789:Blood Group Antigens / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002874:Chromosome Mapping; D003434:Crossing Over, Genetic; D018076:DNA, Complementary / Q000235:genetics; D004303:Dosage Compensation, Genetic; D005091:Exons; D005260:Female; D005786:Gene Expression Regulation; D005796:Genes; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D011995:Recombination, Genetic; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome
chemical_list: D000071443:12E7 Antigen; D015703:Antigens, CD; D001789:Blood Group Antigens; C061828:CD99 protein, human; D015815:Cell Adhesion Molecules; D018076:DNA, Complementary; D008562:Membrane Glycoproteins; D012333:RNA, Messenger; C088785:XG protein, human