Abstract
The NF-κB transcription factor regulates the expression of a number of genes, including immune function and growth control loci, and several viruses. For example, the long terminal repeat of the human immunodeficiency virus contains NF-κB binding sites. NF-κB activity in the nucleus is regulated by a cellular inhibitory protein IκB. To analyze the potential role of these genes in genetic disease we have mapped the NF-κB (NFKB2) and IκB/MAD-3 (NFKBI) loci in a panel of somatic cell hybrids to chromosomes 4 and 14, respectively. Amplification of the 3′ untranslated region of NFKBI allows the detection of three independent polymorphisms within 410 bp. In combination these polymorphisms were informative in 27 of 36 CEPH families and allowed the gene to be placed onto the linkage map of chromosome 14, between the D14S32 and D14S42 markers.
This is a preview of subscription content, log in via an institution to check access.
References
Avramopoulos D, Chakravarti A, Antonarakis SE (1991) DNA polymorphisms in the 3′ untranslated region of genes on human chromosome 21. Genomics 15:98–102.
Bauerle PA (1991) The inducible transcription activator NF-kB: Regulation by distinct protein subunits. Biochim Biophys Acta 1072:63–80.
Bauerle P, Baltimore D (1988) Activation of DNA-binding activity in an apparently cytoplasmic precursor of the NF-κB transcription factor. Cell 53:211–217.
Dausset J, Cann H, Cohen D, Lathrop M, Lalouel J-M, White R (1990) Centre d'Etude du Polymorphisme Humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6:575–577.
Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw K-T, Leppert M (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61:863–870.
Hultman T, Stohl S, Hornes E, Uhlen M (1989) Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucleic Acids Res 17:4937–4946.
Ghosh S, Gifford A, Riviere L, Tempst P, Nolan G, Baltimore D (1990) Cloning of the p50 DNA binding subunit of NF-κB: homology to rel and dorsal. Cell 62:1019–1029.
Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. (1993) Hum mutat 2:404–414.
Kieran M, Blank V, Logeat F, Vandekerckhove J, Lottspeich F, Le Bail O, Urban M, Kourilsky P, Baeuerle P, Isreal A (1990) The DNA binding subunit of NF-κB is identical to factor KbF1 and homologous to the rel oncogene product. Cell 62:1007–1018.
Lander ES, Green P, Abrahamson J, Barlow A, Daly MJ, Lincoln SE, Newburg L (1987) MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics 1:174–181.
Le Beau MM, Ito C, Cogswell P, Espinosa III R, Fernald AA, Baldwin AS Jr (1992) Chromosomal localization of the genes encoding the p50/p105 subunits of NF-κB (NFKB2) and the IκB/MAD-3 (NFKBI) inhibitor of NF-κB to 4q24 and 14q13, respectively. Genomics 14:529–531.
Levitt RC (1991) Polymorphisms in the transcribed 3′ untranslated region of eukaryotic genes. Genomics 11:484–489.
Liptay S, Schmid RM, Perkins ND, Meltzer P, Altherr MR, McPherson JD, Wasmuth JJ, Nabel GJ (1992) Related subunits of NF-κB map to two distinct loci associated with translocations in leukemia, NFKB1 and NFKB2. Genomics 13:287–292.
Murray JC, Van Ommen GJB (1991) Report of the committee on the genetic constitution of chromosome 4. Cytogenet Cell Genet 58:231–260.
Neri A, Chang C-C, Lombardi L, Salina M, Corradini P, Mailo AT, Chaganti RSK, Dalla-Favera R (1991) B cell lymphoma-associated chromosomal translocation involves candidate oncogene lyt-10, homologous to NF-kB p50. Cell 67:1075–1087.
NIH/CEPH Collaborative Mapping Group (1992) A comprehensive genetic linkage map of the human genome. Science 258:67–86.
Nolan G, Ghosh S, Liou H-C, Tempst P, Baltimore D (1991) DNA binding and IκB inhibition of the cloned p65 subunit of NF-κB, a rel-related polypeptide. Cell 64:961–969.
O'Brien SJ, Nash WG, Goodwin JL, Lowy DR, Chang EH (1983) Dispersion of the ras family of transforming genes to four different chromosomes in man. Nature 302:839–842.
Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874–879.
Poduslo SE, Dean M, Kolch U, O'Brien SJ (1991) Detecting high resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphisms (SSCP) analysis. Am J Hum Genet 49:106–111.
Ruben S, Dillon P, Schreck R, Henkel T, Chen C-H, Maher M, Baeurele P, Rosen C (1991) Isolation of a rel-related human cDNA that potentially encodes the 65 kd subunit of NF-κB. Science 251:1490–1493.
Sen R, Baltimore D (1986) Inducibility of κ immunoglobulin enhancer-binding protein NF-κB by a posttranslational mechanism. Cell 47:921–928.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Glavač, D., Ravnik-Glavač, M., O'Brien, S.J. et al. Polymorphisms in the 3′ untranslated region of the IκB/MAD-3 (NFKBI) gene located on chromosome 14. Hum Genet 93, 694–696 (1994). https://doi.org/10.1007/BF00201573
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00201573