Summary
The RD (D6S45) gene in the class III region of the HLA major histocompatibility complex encodes a protein normally containing 24 consecutive basic-acidic dipeptide repeats. We determined the frequency of variations in the number of repeats by use of the polymerase chain reaction. Of 107 subjects 7 (3.3%) carried genes encoding 22 or 23 repeats. There was no difference in the frequency of such polymorphisms between normal individuals and those with systemic lupus erythematosus, a disease associated with other polymorphisms in the class III region of HLA. The frequency of polymorphisms in proteins with oligopeptide repeats may provide useful information concerning functional constraints on repeat number.
References
Bartolomei MS, Halden NF, Cullen CR, Corden JL (1988) Genetic analysis of the repetitive carboxyl-terminal domain of the largest subunit of mouse RNA polymerase II. Mol Cell Biol 8:330–339
Choubey D, Snoddy J, Chaturvedi V, Toniato E, Opdenakker G, Thakur A, Samanta H, Engel DA, Lengyel P (1989) Interferons as gene activators: indications for repeated gene duplication during the evolution of a cluster of interferon-activatable genes on murine chromosome 1. J Biol Chem 264:17182–17189
Davis LI, Fink GR (1990) The NUP1 gene encodes an essential component of the yeast nuclear pore complex. Cell 61:965–978
Fielder AHL, Walport MJ, Batchelor JB, Rynes RI, Black CM, Dodi IA, Hughes GRV (1983) Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J 286:425–428
Gyllensten UB, Erlich HA (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 85:7652–7656
Levi-Strauss M, Carroll MC, Steinmetz M, Meo T (1988) A previously undetected MHC gene with an unusual periodic structure. Science 240:201–204
Myes MW, Lazzarini RA, Lee VMY, Schlaepfer WW, Nelson DL (1987) The mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. EMBO J 6:1617–1626
Speiser PW, White PC (1989) Structure of the human RD gene: a highly conserved gene in the class III region of the major histocompatibility complex. DNA 8:745–751
Spritz RA, Strunk K, Surowy CS, Hoch SO, Barton DE, Francke U (1987) The human U1 70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res 15:10373–10391
Surowy CS, Hoganson C, Gosink J, Strunk K, Spritz RA (1990) The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved. Gene 90:299–302
Sykes B (1990) Bone disease cracks genetics. Nature 348:18–21
Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388–396
Werkmeister JM, New MI, Dupont B, White PC (1986) Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet 39:461–469
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
White, P.C., Vitek, J., Lahita, R.G. et al. Polymorphism in the RD (D6S45) gene. Hum Genet 89, 243–244 (1992). https://doi.org/10.1007/BF00217132
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00217132