title: Genetic variants of human red-cell membrane sialoglycoprotein beta. Study of the alterations occurring in the sialoglycoprotein-beta gene.
abstract: We have studied the DNA of individuals who express an altered sialoglycoprotein beta on their red cells by using Southern blotting with sialoglycoprotein-beta cDNA probes. Individuals of the Leach phenotype do not express any beta (sialoglycoprotein beta) or gamma (sialoglycoprotein gamma) on their red cells, and we show that about 7 kb of DNA, including the 3' end of the beta gene, is deleted in this DNA. Any protein product of this gene is likely to lack the membrane-associating domain of beta. We have also examined the DNA of two types of other individuals (Yus-type and Gerbich-type) who have red cells that lack beta and gamma, but contain abnormal sialoglycoproteins related to beta. These two types of DNA contain different internal deletions of about 6 kb in the beta gene. We suggest that these deletions result from the presence of two different sets of internal homology in the beta gene, and on this basis we propose structures for the abnormal Yus-type and Gerbich-type sialoglycoproteins which are consistent with the other evidence that is available. We provide evidence that beta and gamma are products of the same gene and suggest a possible mechanism for the origin of gamma based on leaky initiation of translation of beta mRNA.
authors.affiliation: Department of Biochemistry, University of Bristol, U.K.
authors.forename: M J
authors.initials: MJ
authors.lastname: Tanner
authors.forename: S
authors.initials: S
authors.lastname: High
authors.forename: P G
authors.initials: PG
authors.lastname: Martin
authors.forename: D J
authors.initials: DJ
authors.lastname: Anstee
authors.forename: P A
authors.initials: PA
authors.lastname: Judson
authors.forename: T J
authors.initials: TJ
authors.lastname: Jones
mesh_terms: D000595:Amino Acid Sequence; D004247:DNA / Q000097:blood / Q000235:genetics; D004262:DNA Restriction Enzymes; D015245:Deoxyribonuclease BamHI; D015247:Deoxyribonuclease HindIII; D015252:Deoxyribonucleases, Type II Site-Specific; D004587:Electrophoresis, Agar Gel; D004910:Erythrocyte Membrane / Q000378:metabolism*; D004913:Erythrocytes, Abnormal / Q000378:metabolism; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000097:blood / Q000235:genetics; D012795:Sialoglycoproteins / Q000097:blood / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; D012795:Sialoglycoproteins; D004247:DNA; D004262:DNA Restriction Enzymes; D015245:Deoxyribonuclease BamHI; D015247:Deoxyribonuclease HindIII; C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific