title: High frequency of G to A transition mutation in the stromal cell derived factor-1 gene in India, a chemokine that blocks HIV-1 (X4) infection: multiple proteins bind to 3'-untranslated region of SDF-1 RNA.
abstract: It has become clear that mutations in a variety of host genes possess the ability to influence the progression of HIV-1, prominent among them are the chemokines. Stromal cell derived factor-1 (SDF-1), an alpha-chemokine, is a natural ligand for HIV-1 coreceptor-CXCR4 and a potent chemokine that blocks infection by X4 viruses. Nucleotide G to A transition (nucleotide position 801 with respect to the ATG initiation codon) in the 3'-untranslated region of SDF-1 RNA is implicated in having disease-modifying effects. We have screened 100 normal healthy individuals from north India where HIV-1 is spreading at an alarming rate. This mutation is present in 40% (40 out of 100) individuals, 32% being heterozygous and 8% being homozygous for this mutation. This mutation showed Mendelian inheritance in one of the families studied. This observation could be important in understanding the progression or pathogenesis of HIV-1 in India. We also show that multiple proteins bind in the 3'-untranslated region of the SDF-1 RNA.
authors.affiliation: Laboratory of Virology, National Institute of Immunology, JNU Campus, Aruna Asaf Ali Marg, New Delhi-110067, India.
authors.forename: N
authors.initials: N
authors.lastname: Ramamoorti
authors.forename: J
authors.initials: J
authors.lastname: Kumarvelu
authors.forename: G K
authors.initials: GK
authors.lastname: Shanmugasundaram
authors.forename: K
authors.initials: K
authors.lastname: Rani
authors.forename: A C
authors.initials: AC
authors.lastname: Banerjea
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000818:Animals; D054377:Chemokine CXCL12; D019743:Chemokines, CXC / Q000235:genetics* / Q000378:metabolism*; D024202:Electrophoretic Mobility Shift Assay; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D005820:Genetic Testing; D015497:HIV-1 / Q000502:physiology*; D006367:HeLa Cells; D006801:Humans; D007194:India; D008297:Male; D010215:Papio; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D011485:Protein Binding; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000378:metabolism*
chemical_list: D020413:3' Untranslated Regions; C515255:CXCL12 protein, human; D054377:Chemokine CXCL12; D019743:Chemokines, CXC; D012333:RNA, Messenger; D016601:RNA-Binding Proteins