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), Vol. 29:34; ISSN 0006-2960
• Country of Publication: United States
• Language: English

Related Subjects

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