Intron-exon organization of the active human protein S gene PS. alpha. and its pseudogene PS. beta. : Duplication and silencing during primate evolution

Journal Article · Tue Aug 28 00:00:00 EDT 1990 · Biochemistry; (USA)

DOI:https://doi.org/10.1021/bi00486a011· OSTI ID:6101898

Ploos van Amstel, H; Reitsma, P H; van der Logt, C P; Bertina, R M ^[1]

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1. University Hospital, Leiden (Netherlands)

The human protein S locus on chromosome 3 consists of two protein S genes, PS{alpha} and PS{beta}. Here the authors report the cloning and characterization of both genes. Fifteen exons of the PS{alpha} gene were identified that together code for protein S mRNA as derived from the reported protein S cDNAs. Analysis by primer extension of liver protein S mRNA, however, reveals the presence of two mRNA forms that differ in the length of their 5{prime}-noncoding region. Both transcripts contain a 5{prime}-noncoding region longer than found in the protein S cDNAs. The two products may arise from alternative splicing of an additional intron in this region or from the usage of two start sites for transcription. The intron-exon organization of the PS{alpha} gene fully supports the hypothesis that the protein S gene is the product of an evolutional assembling process in which gene modules coding for structural/functional protein units also found in other coagulation proteins have been put upstream of the ancestral gene of a steroid hormone binding protein. The PS{beta} gene is identified as a pseudogene. It contains a large variety of detrimental aberrations, viz., the absence of exon I, a splice site mutation, three stop codons, and a frame shift mutation. Overall the two genes PS{alpha} and PS{beta} show between their exonic sequences 96.5% homology. Southern analysis of primate DNA showed that the duplication of the ancestral protein S gene has occurred after the branching of the orangutan from the African apes. A nonsense mutation that is present in the pseudogene of man also could be identified in one of the two protein S genes of both chimpanzee and gorilla. This implicates that silencing of one of the two protein S genes must have taken place before the divergence of the three African apes.

• OSTI ID: 6101898
• Journal Information: Biochemistry; (USA), Journal Name: Biochemistry; (USA) Vol. 29:34; ISSN 0006-2960; ISSN BICHA
• Country of Publication: United States
• Language: English

Related Subjects

550600* -- Medicine
62 RADIOLOGY AND NUCLEAR MEDICINE
AMINO ACID SEQUENCE
ANIMALS
BIOLOGICAL EVOLUTION
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY
BODY FLUIDS
CHROMOSOMAL ABERRATIONS
DIGESTIVE SYSTEM
DNA
DNA SEQUENCING
DNA-ASE
ENDONUCLEASES
ENZYMES
ESTERASES
GLANDS
GLYCOPROTEINS
HYDROLASES
LEUKOCYTES
LIVER
MAMMALS
MAN
MATERIALS
MOLECULAR STRUCTURE
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PHOSPHODIESTERASES
PRIMATES
PROTEINS
RECOMBINANT DNA
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES