The human T-cell receptor gamma variable pseudogeneV10 is a distinctive marker of human speciation

Autor: Guy Cathala, Zohra Soua, Sylvie Huck, Xiao-Min Zhang, Marie-Paule Lefranc
Přispěvatelé: Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université de Sousse
Rok vydání: 1996
Předmět:
Genetic Markers
Pan troglodytes
RNA Splicing
Pseudogene
Molecular Sequence Data
Immunology
Amino Acid Sequence Animals Base Sequence *Evolution *Genetic Markers Gorilla gorilla Hominidae/classification/*genetics Humans Molecular Sequence Data Pan troglodytes Point Mutation Pongo pygmaeus *Pseudogenes RNA Splicing Receptors
Locus (genetics)
Biology
03 medical and health sciences
0302 clinical medicine
Species Specificity
Pongo pygmaeus
Sequence Homology
Nucleic Acid
Genetics
Animals
Humans
Point Mutation
[SDV.BBM]Life Sciences [q-bio]/Biochemistry
Molecular Biology
splice
Amino Acid Sequence
Gene
030304 developmental biology
Common gamma chain
0303 health sciences
Gorilla gorilla
Base Sequence
Point mutation
Intron
Hominidae
Receptors
Antigen
T-Cell
gamma-delta
T-Cell
Biological Evolution
Nucleic Acid Species Specificity
gamma-delta/*genetics Sequence Homology
030220 oncology & carcinogenesis
Antigen
RNA splicing
Pseudogenes
030215 immunology
Zdroj: Immunogenetics
Immunogenetics, Springer Verlag, 1996, 43 (4), pp.196--203. ⟨10.1007/bf00587300⟩
ISSN: 1432-1211
0093-7711
DOI: 10.1007/bf00587300
Popis: The V10 variable gene of the human T-cell receptor gamma locus (TCRG-V10), the only member of the subgroup III, has a structural defect which inhibits the splicing of the leader intron. We show that there is a single point mutation in the V10 leader donor splice site responsible for this situation and that this mutation is found in the different populations tested, indicating that V10 corresponds to a pseudogene in humans. We restored the splice site by mutagenesis and obtained correct splicing in vitro. Analysis of the V10 germline gene in different primates reveals functional splice sites in the closest human apes, the chimpanzee and the gorilla. The splice competence of TCRG-V10 in higher primates was addressed in peripheral blood lymphocytes from chimpanzee by specific cDNA amplification, and correct splicing of the TCRG-V10 leader intron was found as well as a majority of in frame rearrangements involving only the TCRG-J1 or J2 segments. These results suggest that V10(+)gamma /delta T cells may represent an important subset in the non-human higher primates, contrary to the situation observed in the human.
Databáze: OpenAIRE
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