Abstract
Using the yeast artificial chromosome (YAC) 116 flanking the autosomal recessive spinal muscular atrophy (SMA) gene region, we have screened a human fetal brain cDNA library and isolated the cDNA clone 14-3/9 with an insert size of 2.5 kb. The cDNA clone could be identified as part of the human rRNA gene coding for 28S rRNA with a total size of 5025 bp. The human 28S rRNA is involved in the organization of the 60S ribosomal subparticle and is arranged in a 13-kb pre-rRNA transcription unit that occurs in tandem repeat clusters. Multiple copies of the rRNA gene have been mapped by pulsed field blot hybridization in the YAC contig between YAC 66 and YAC 116, which encompasses the SMA candidate gene, and additionally in the distally localized YAC 153.
This is a preview of subscription content, log in via an institution to check access.
References
Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, Dubowitz V, Zerres K, Hausmanowa-Petrusewicz I, Ott J, Munsat TL, Gilliam TC (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3. Nature 344:540–541
Daniels RJ, Thomas NH, MacKinnon RN, Lehner T, Ott J, Flint TJ, Dubowitz V, Ignatius J, Donner M, Zerres K, Rietschel M. Cookson WOC, Brzustowicz LM, Gilliam TC, Davies KE (1992) Linkage analysis of spinal muscular atrophy. Genomics 12:335–339
Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoullou Z, Daniels RJ, Monaco AP, Frischauf AM, McPherson J, Wasmuth J, Davies KE (1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 2:1161–1167
Gaubatz J, Prashad N, Cutler RG (1976) Ribosomal RNA gene dosage as a function of tissue and age for mouse and human. Biochim Biophys Acta 418:358–375
Gonzalez IL, Gorski JL, Campen TJ, Dorney DJ, Erickson JM, Sylvester JE, Schmickel RD (1985) Variation among 28S ribosomal RNA genes. Proc Natl Acad Sci USA 82:7666–7670
Gourse RL, Gerbi SA (1980) Fine structure of ribosomal RNA. J Mol Biol 140:321–339
Green L, Van-Antwerpen R, Stein J, Stein G, Triputti P, Emanuel B, Selden J, Croce C (1984) A major human histone gene cluster on the long arm of chromosome 1. Science 226:838–840
Henderson AS, Warburton D, Atwood KC (1972) Location of ribosomal DNA in the human chromosome complement. Proc Natl Acad Sci USA 69:3394–3398
Huschenbett J, Gasch A, Katzer A, Speer A (1994) Fine mapping of human PI 3-kinase associated p85α transcripts in the YAC contig surrounding the spinal muscular atrophy gene. Hum Genet 94:427–431
Huschenbett J, Volz A, Pfeifer L, Speer A (1994) Possibilities and limitations of carrier diagnosis in families with Duchenne muscular dystrophy caused by deletions in the major hot spot region using pulsed-field gel electrophoresis. Biomed Biochim Acta 50:1205–1212
Ivanova VS, Ziminjic D, Popescu N, Bonner WM (1994) Chromosomal localization of the human histone H2A.X gene to 11q23.2-q23.3. Hum Genet 94:303–306
Kleyn PW, Wang CH, Lien LL, Vitale E, Pan J, Ross BM, Grunn A, Palmer DA, Warburton D, Brzustowicz LM, Kunkel LM, Gilliam TC (1993) Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 90:6801–6805
Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, Fontan D, Ponsot G, Billette T, Angelini C, Barbosa C, Ferriere G, Lanzi G, Ottolini A, Babron MC, Cohen D, Hanauer A, Clerget-Darpoux KF, Lathrop M, Munnich A, Frezal J (1990) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344:767–768
Popescu N, Zimonjic D, Hatch C, Bonner W (1994) Chromosomal mapping of the human histone gene H2AZ to 4q24 by fluorescence in situ hybridization. Genomics 20:333–335
Sambrook J, Fritsch FF, Maniatis T (1989) Molecular cloning: a laboratory manual 2nd. edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
Thompson TG, Morrison KE, Kleyn P, Bengtsson U, Gilliam TC, Davies KE, Wasmuth JJ, McPherson JD (1993) High resolution physical map of the region surrounding the spinal muscular atrophy gene. Hum Mol Genet 2:1169–1176
Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AHM, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nature Genet 9:56–61
Triputti P, Emanuel BS, Croce CM, Green LG, Stein GS, Stein JL (1986) Human histone genes map to multiple chromosomes. Proc Natl Acad Sci USA 83:3185–3188
Wellauer PK, Dawid IB (1979) Isolation and sequence organization of human ribosomal DNA. J Mol Biol 128:289–303
Wirth B, Voosen B, Röhrig D, Knapp M, Piechaczek B, Rudnik-Schöneborn S, Zerres K (1993) Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by inkage studies. Genomics 15:113–118
Worton RG, Sutherland J, Sylvester JE, Willard HF, Bodrug S, Dubé I, Duff C, Kean V, Ray PN, Schmickel RD (1988) Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5′ end. Science 239:64–68
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Huschenbett, J., Gasch, A., Katzer, A. et al. Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene. Hum Genet 96, 335–338 (1995). https://doi.org/10.1007/BF00210418
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00210418