A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders.

Mapping of the human ribosomal protein (RP) genes has been completed, and all 80 different genes were placed on a cytogenetic map of the human genome. Because of the existence of processed pseudogenes, the localization of the RP genes was complicated, and five genes had remained to be mapped. Here we developed a novel strategy to identify sequence-tagged sites (STSs) at introns of the RP genes, and we localized RPL14, RPL22, RPL35, RPL36, and RPL39 within the chromosomes by radiation hybrid mapping. Unlike the case of eubacteria or archaebacteria, human RP genes are widely scattered about the genome. Together with the previous results, both sex chromosomes and 20 autosomes (all but chromosomes 7 and 21) were found to carry one or more RP genes. To explore the possible involvement of RP genes in human disorders, all 80 genes were assigned to cytogenetic bands according to a published cytogenetic BAC-STS map of the human genome. We compared the assigned positions with candidate regions for Mendelian disorders and found certain genes that might be involved in particular human disorders.

[1]  I. Dianzani,et al.  Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. , 1999, Blood.

[2]  Z. Estrov,et al.  Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. , 1989, Blood.

[3]  N Goodman,et al.  A map of 75 human ribosomal protein genes. , 1998, Genome research.

[4]  N. Kenmochi,et al.  The human ribosomal protein L6 gene in a critical region for Noonan syndrome , 2000, Journal of Human Genetics.

[5]  J. Rowley,et al.  The 3;21 translocation in myelodysplasia results in a fusion transcript between the AML1 gene and the gene for EAP, a highly conserved protein associated with the Epstein-Barr virus small RNA EBER 1. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[6]  Diamond Lk,et al.  CONGENITAL hypoplastic anemia. , 1957, Nutrition reviews.

[7]  D. Page,et al.  Turner syndrome: the case of the missing sex chromosome. , 1993, Trends in genetics : TIG.

[8]  A. Hagemeijer,et al.  AMLI fusion transcripts in t(3;21) positive leukemia: Evidence of molecular heterogeneity and usage of splicing sites frequently involved in the generation of normal AMLI transcripts , 1994, Genes, chromosomes & cancer.

[9]  O. Meyuhas,et al.  13 Translational Control of Ribosomal Protein mRNAs in Eukaryotes , 1996 .

[10]  E. Mariman,et al.  Mapping a gene for Noonan syndrome to the long arm of chromosome 12 , 1994, Nature Genetics.

[11]  M. Kelley,et al.  Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidinic sites. , 1994, The Journal of biological chemistry.

[12]  P. Beer-Romero,et al.  Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome , 1990, Cell.

[13]  J. Steitz,et al.  The Epstein-Barr virus (EBV) small RNA EBER1 binds and relocalizes ribosomal protein L22 in EBV-infected human B lymphocytes. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[14]  M. Rosbash,et al.  A Drosophila Minute gene encodes a ribosomal protein , 1985, Nature.

[15]  S. Kato,et al.  Construction of a human full-length cDNA bank. , 1994, Gene.

[16]  N. Kenmochi,et al.  High-resolution mapping of ribosomal protein genes to human chromosome 19. , 1998, DNA research : an international journal for rapid publication of reports on genes and genomes.

[17]  R. Fellous,et al.  Implication of Mammalian Ribosomal Protein S3 in the Processing of DNA Damage (*) , 1995, The Journal of Biological Chemistry.

[18]  Peter Gustavsson,et al.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia , 1999, Nature Genetics.

[19]  Tom Slezak,et al.  An integrated metric physical map of human chromosome 19 , 1995, Nature Genetics.

[20]  I. Wool.  Extraribosomal functions of ribosomal proteins. , 1996, Trends in biochemical sciences.

[21]  A. Levine,et al.  The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes , 1994, Molecular and cellular biology.

[22]  R. Mulivor,et al.  NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. , 1993, Genomics.

[23]  A. Yacoub,et al.  A Drosophila ribosomal protein contains 8‐oxoguanine and abasic site DNA repair activities. , 1996, The EMBO journal.

[24]  I. Wool,et al.  24 Mammalian Ribosomes: The Structure and the Evolution of the Proteins , 1996 .

[25]  P. Bryant,et al.  Drosophila homolog of the human S6 ribosomal protein is required for tumor suppression in the hematopoietic system. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[26]  J. Noonan.  Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. , 1968, American journal of diseases of children.

[27]  J. Fryns,et al.  Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family , 1998, European Journal of Human Genetics.

[28]  M. Jay,et al.  Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. , 1996, American journal of human genetics.

[29]  T. L. McGee,et al.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. , 1997, American journal of human genetics.

[30]  F. Laski,et al.  string of pearls encodes Drosophila ribosomal protein S2, has Minute-like characteristics, and is required during oogenesis. , 1994, Genetics.

[31]  A. Lambertsson.  The minute genes in Drosophila and their molecular functions. , 1998, Advances in genetics.

[32]  B. Birren,et al.  Human genome anatomy: BACs integrating the genetic and cytogenetic maps for bridging genome and biomedicine. , 1999, Genome research.

[33]  R. Perry,et al.  A characterization of the elements comprising the promoter of the mouse ribosomal protein gene RPS16. , 1989, Nucleic acids research.

[34]  J. Noonan.  Noonan Syndrome , 1994, Clinical pediatrics.

[35]  D. Page,et al.  Functional equivalence of human X– and Y–encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome , 1993, Nature Genetics.

[36]  I. Wool.  The structure and function of eukaryotic ribosomes. , 1979, Annual review of biochemistry.

[37]  N. Kenmochi,et al.  Gene organization and sequence of the region containing the ribosomal protein genes RPL13A and RPS11 in the human genome and conserved features in the mouse genome. , 1999, Gene.