Human - ovine comparative sequencing of a 250 kilobase imprinted domain encompassing the callipyge (clpg) gene and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11 and MEG8
[en] Two ovine BAC clones and a connecting long-range PCR product, jointly spanning ∼250 kb and representing most of theMULGE5-OY3 marker interval known to contain the clpglocus, were completely sequenced. The resulting genomic sequence was aligned with its human ortholog and extensively annotated. Six transcripts, four of which were novel, were predicted to originate from within the analyzed region and their existence confirmed experimentally: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8. RT-PCR experiments performed on a range of tissues sampled from an 8-wk-old animal demonstrated the preferential expression of all six transcripts in skeletal muscle, which suggests that they are under control of common regulatory elements. The six transcripts were also shown to be subject to parental imprinting: DLK1, DAT, andPEG11 were shown to be paternally expressed and GTL2,antiPEG11, and MEG8 to be maternally expressed.
Disciplines :
Veterinary medicine & animal health
Author, co-author :
Charlier, Carole ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
SEGERS, Karin ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
Wagenaar, D.
Karim, Latifa ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Berghmans, S.
Jaillon, O.
Shay, T.
Weissenbach, J.
Cockett, N.
Gyapay, G.
Georges, Michel ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Language :
English
Title :
Human - ovine comparative sequencing of a 250 kilobase imprinted domain encompassing the callipyge (clpg) gene and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11 and MEG8
Publication date :
2001
Journal title :
Genome Research
ISSN :
1088-9051
eISSN :
1549-5469
Publisher :
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, United States - New York
Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. 1990. Basic local alignment search tool. J. Mol. Biol. 215: 403-410.
Berghmans, S., Segers, K., Shay, T., Georges, M., Cockett, N. E. and Charlier, C. 2001. Breakpoint mapping positions the callipyge gene within a 285 kilobase chromosome segment containing the Gtl-2 gene. Mamm. Genome 12: 183-185.
Bernardi, G. 1995. The human genome: Organization and evolutionary history. Annu. Rev. Genet. 29: 445-476.
Burge, C. and Karlin, S. 1997. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268: 78-94.
Cockett, N.E., Jackson, S.P., Shay, T.L., Nielsen, D., Green, R.D., and Georges, M. 1994. Chromosomal localisation of the callipyge gene in sheep (Ovis aries) using bovine DNA markers. Proc. Natl. Acad. Sci. 91: 3019-3023.
Cockett, N.E., Jackson, S., Shay, T.E., Farnir, F., Berghmans, S., Snowder, G., Nielsen, D., and Georges, M. 1996. Polar overdominance at the ovine callipyge locus. Science 273: 236-238.
Carpenter, C.E., Rice, O.D., Cockett, N.E., and Snowder, G.D. 1996. Histology and composition of muscles from normal and callipyge lambs. J. Anim. Sci. 74: 388-393.
Ewing, B. and Green, P. 1998. Base-calling of automated sequencer traces using PHRED II. Error probabilities. Genome Res. 8:186-194.
Ewing, B., Hillier, L., Wendl, M.C., and Green, P. 1998. Base-calling of automated sequencer traces using PHRED I Accuracy assessment. Genome Res. 8: 175-185.
Fahrenkrug, S.C., Freking, B.A., and Smith, T.P.L. 1999. Genomic organization and genetic mapping of the bovine PREF-1 gene. Biochem. Biophys. Res. Comm. 264: 662-667.
Fahrenkrug, S.C., Freking, B.A., Rexroad III, C.E., Leymaster, K.A., and Smith, T.P.L. 2000. Comparative mapping of the ovine clpg locus. Mamm. Genome 11: 871-876.
Freking, B.A., Keele, J.W., Beattie, C.W., Kappes, S.M., Smith, T.P., Sonstegard, T.S., Nielsen, M.K., and Leymaster, K.A. 1998a. Evaluation of the ovine callipyge locus: I. Relative chromosomal position and gene action. J. Anim. Sci. 76: 2062-2071.
Freking, B.A., Keele, J.W., Nielsen, M.K., and Leymaster, K.A. 1998b. Evaluation of the ovine callipyge locus: II. Genotypic effects on growth, slaughter, and carcass traits. J. Anim. Sci. 76: 2549-2559.
Freking, B.A., Keele, J.W., Shackelford, S.D., Wheeler, T.L., Koohmaraie, M., Nielsen, M.K., and Leymaster, K.A. 1998c. Evaluation of the ovine callipyge locus: III. Genotypic effects on meat quality traits. J. Anim. Sci. 77: 2336-2344.
Gardiner-Garden, M. and Frommer, M. 1987. CpG islands in vertebrate genomes. J Mol. Biol. 196: 261-282.
Gordon, D., Abajian, C., and Green, P. 1998. CONSED: A graphical tool for sequence finishing. Genome Res. 8: 195-202.
Jackson, S.P., Green, R.D., and Miller, M.F. 1997a. Phenotypic characterization of Rambouillet sheep expressing the callipyge gene: I. Inheritance of the condition and production. J. Anim. Sci. 75: 14-21.
Jackson, S.P., Miller, M.F., and Green, R.D. 1997b. Phenotypic characterization of Rambouillet sheep expressing the callipyge gene: II. Carcass characteristics and retail yield. J. Anim. Sci. 75: 125-132.
Jackson, S.P., Miller, M.F., and Green, R.D. 1997c. Phenotypic characterization of Rambouillet sheep expressing the callipyge gene: III. Muscle weights and muscle weight distribution. J. Anim. Sci. 75: 133-139.
Laborda, J. 2000. The role of epidermal growth factor-like protein DLK in cell differentiation. Histol. Histopathol. 15: 119-129.
Larsen, F., Gundersen, G., Lopez, R., and Prydz, H. 1992. CpG islands as gene markers in the human genome. Genomics 13: 1095-1107.
Lee, Y.L., Helman, L., Hoffman, T., and Laborda, J. 1995. DLK, pG2 and Pref1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA. Biochim. Biophys. Acta 1261: 223-232.
Lyle, R., Watanabe, D., te Vruchte, D., Lerchner, W., Smrzka, O.W., Wutz, A., Schageman, J., Hahner, L., Davies, C., and Barlow, D.P. 2000. The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1. Nat. Genet. 25: 19-21.
Miyoshi, N., Wagatsuma, H., Wakana, S., Shiroishi, T., Nomura, M., Aisaka, K., Kohda, T., Surani, M., Kaneko-Ishino, T., and Ishino, F. 2000. Identification of an imprinted gene, Meg3/Gtl2 and its human homologue MEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q. Genes Cells 5:211-220.
Needleman, S.B. and Wunsch, C.D. 1970. A general method applicable to the search for similarities in the amino acid sequence of two proteins. J. Mol. Biol. 48: 443-453.
Schmidt, J.V., Matteson, P.G., Jones, B.K., Guan, X.-J., Tilghman, S.M. 2000. The Dlk1 and Gtl2 genes are linked and reciprocally imprinted. Genes & Dev. 14: 1997-2002.
Schuster-Gossler, K., Simon, D., Guénet, J.-L., Zachgo, J. and Gossler, A. 1996. GTL2lacz, an insertional mutation on mouse chromosome 12 with parental origin dependent phenotype. Mamm. Genome 7: 20-24.
Schuster-Gossler, K., Bilinski, P. Sado T., Ferguson-Smith A. and Gossler A. 1998. The mouse gtl2 gene is differentially expressed during embryonic development, encodes multiple alternatively spliced transcripts, and may act as an RNA. Dev. Dyn. 212: 214-228.
Segers, K., Vaiman, D., Berghmans, S., Shay, T., Cockett, N., Georges, M., and Charlier, C. 2001. Construction and characterization of an ovine BAC contig spanning the callipyge locus. Anim. Genet. 31: 352-359.
Shay, T., Berghmans, S., Segers, K., Meyers, S., Womack., J., Beever, J., Georges, M., Charlier, C. and Cockett, N.L. 2001. Construction of a contig spanning a 4.6 centimorgan interval containing the CLPG locus. Mamm. Genome 12: 141-149.
Sleutels, F., Barlow, D.P., and Lyle, R. 2000. The uniqueness of the imprinting mechanism. Curr. Opin. Genet. Dev. 10: 229-233.
Smas, C.M., Green D., and Sul, H.S. 1994. Structural characterization and alternate splicing of the gene encoding the preadipocyte EGF-like protein Pref-1. Biochemistry 33: 9257-9265.
Smas, C.M., Chen, L., and Sul, H.S. 1997. Cleavage of membrane-associated pref-1 generates a soluble inhibitor of adipocyte differentiation. Mol. Cell. Biol. 17: 977-988.
Smit, A.F.A. 1999. Interspersed repeats and other mementos of transposable elements in mammalian genomes. Curr. Opin. Genet. Dev. 9: 657-663.
Smit, A.F.A. and Green, P. 2000. RepeatMasker server on World Wide Web. http://repeatmasker.genome.washington.edu.
Takada, S., Tevendale, M., Baker, J., Georgiades, P., Campbell, E., Freeman, T., Johnson, M.H., Paulsen, M., and Ferguson-Smith, A.C. 2000. Dlk (Delta-like) and Gtl2 are closely linked reciprocally imprinted genes on mouse chromosome 12 and are paternally methylated and co-expressed during development. Curr. Biol. 10: 1135-1138.
Wylie, A.A., Murphy, S.K., Orton, T.C., and Jirtle, R.L. 2000. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. Genome Res. 10: 1711-1718.