A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus)

PLoS ONE

Volumn 5, Issue 11, 2010, Pages

  Flisikowski, Krzysztof ^a   Venhoranta, Heli ^b   Nowacka Woszuk, Joanna ^c   Mckay, Stephanie D ^d   Flyckt, Antti ^b   Taponen, Juhani ^b   Schnabel, Robert ^d   Schwarzenbacher, Hermann ^a,e   Szczerbal, Izabela ^c   Lohi, Hannes ^b   Fries, Ruedi ^a   Taylor, Jeremy F ^d   Switonski, Marek ^c   Andersson, Magnus ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF HELSINKI   (Finland)

^c POZNA UNIVERSITY OF LIFE SCIENCES   (Poland)

^d UNIVERSITY OF MISSOURI   (United States)

^e ZucbtData EDV Dienstleistungen GmbH   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MER1 REPEAT CONTAINING IMPRINTED TRANSCRIPT 1; MESSENGER RNA; PATERNALLY EXPRESSED PROTEIN 3; UBIQUITIN SPECIFIC PEPTIDASE 29; UNCLASSIFIED DRUG; KRUPPEL LIKE FACTOR;

ABORTION; ANIMAL TISSUE; ARTICLE; BRAIN; CATTLE FARMING; CONTROLLED STUDY; COTYLEDON; FEMALE; FETUS; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENE SILENCING; GENOME ANALYSIS; GENOME IMPRINTING; LETHALITY; LINKAGE ANALYSIS; MALE; MORTALITY; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROGENY; PROTEIN DEPLETION; PROTEIN DOMAIN; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; STILLBIRTH; SURVIVAL RATE; ANIMAL; ANIMAL DISEASE; ARTIFICIAL INSEMINATION; CATTLE; CELL CULTURE; CHROMOSOME DELETION; CHROMOSOME MAP; GENE EXPRESSION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MUTATION; NEWBORN; PEDIGREE; PREGNANCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VETERINARY ABORTION;

BOS; BOS TAURUS;

ABORTION, VETERINARY; ANIMALS; ANIMALS, NEWBORN; CATTLE; CELLS, CULTURED; CHROMOSOME DELETION; CHROMOSOME MAPPING; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; GENOTYPE; INSEMINATION, ARTIFICIAL; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; STILLBIRTH;

EID: 78649771224     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0015116     Document Type: Article

References (27)

1. Ducos A, Revay T, Kovacs A, Hidas A, Pinton A, et al. (2008) Cytogenetic screening of livestock populations in Europe: an overview. Cytogenet Genome Res 120: 26-41.
2. Nicholas FW (2005) Animal breeding and disease. Philos Trans R Soc Lond B Biol Sci 360: 1529-1536.
3. Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, et al. (2007) Computational and experimental identification of novel human imprinted genes. Genome Res 17: 1723-1730.
4. Couldrey C, Lee RS (2010) DNA methylation patterns in tissues from midgestation bovine foetuses produced by somatic cell nuclear transfer show subtle abnormalities in nuclear reprogramming. BMC Dev Biol 10: 27.
5. Biliya S, Bulla LA Jr. (2010) Genomic imprinting: the influence of differential methylation in the two sexes. Exp Biol Med (Maywood) 235: 139-147.
6. Bittel DC, Butler MG (2005) Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 7: 1-20.
7. Cassidy SB, Driscoll DJ (2009) Prader-Willi syndrome. Eur J Hum Genet 17: 3-13.
8. Charlier C, Segers K, Karim L, Shay T, Gyapay G, et al. (2001) The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status. Nat Genet 27: 367-369.
9. Fleming-Waddell JN, Olbricht GR, Taxis TM, White JD, Vuocolo T, et al. (2009) Effect of DLK1 and RTL1 but not MEG3 or MEG8 on muscle gene expression in Callipyge lambs. PLoS One 4: e7399.
10. Kim J, Bergmann A, Choo JH, Stubbs L (2007) Genomic organization and imprinting of the Peg3 domain in bovine. Genomics 90: 85-92.
11. Kim JD, Yu S, Choo JH, Kim J (2008) Two evolutionarily conserved sequence elements for Peg3/Usp29 transcription. BMC Mol Biol 9: 108.
12. Huang JM, Kim J (2009) DNA methylation analysis of the mammalian PEG3 imprinted domain. Gene 442: 18-25.
13. Li L, Keverne EB, Aparicio SA, Ishino F, Barton SC, et al. (1999) Regulation of maternal behavior and offspring growth by paternally expressed Peg3. Science 284: 330-333.
14. Kuroiwa Y, Kaneko-Ishino T, Kagitani F, Kohda T, Li LL, et al. (1996) Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein. Nat Genet 12: 186-190.
15. Seaton A, Herdandez J, Grunchec JA, White I, Allen J, et al. (2006) GridQTL: A Grid Portal for QTL Mapping of Compute Intensive Datasets. Proceedings of the 8th World Congress on Genetics Applied to Livestock Production August 13-18, 2006: Belo Horizonte, Brazil.
16. Zimin AV, Delcher AL, Florea L, Kelley DR, Schatz MC, et al. (2009) A wholegenome assembly of the domestic cow, Bos taurus. Genome Biol 10: R42.
17. Xu Z, Wei W, Gagneur J, Perocchi F, Clauder-Munster S, et al. (2009) Bidirectional promoters generate pervasive transcription in yeast. Nature 457: 1033-1037.
18. Bartolomei MS, Webber AL, Brunkow ME, Tilghman SM (1993) Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev 7: 1663-1673.
19. Ferguson-Smith AC, Sasaki H, Cattanach BM, Surani MA (1993) Parentalorigin- specific epigenetic modification of the mouse H19 gene. Nature 362: 751-755.
20. Arnaud P, Hata K, Kaneda M, Li E, Sasaki H, et al. (2006) Stochastic imprinting in the progeny of Dnmt3L-/- females. Hum Mol Genet 15: 589-598.
21. Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, et al. (2003) The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 11: 138-144.
22. Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, et al. (2009) Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet 52: 108-115.
23. Locke MM, Penedo MC, Bricker SJ, Millon LV, Murray JD (2002) Linkage of the grey coat colour locus to microsatellites on horse chromosome 25. Anim Genet 33: 329-337.
24. Cribiu EP, Di Berardino D, Di Meo GP, Eggen A, Gallagher DS, et al. (2001) International System for Chromosome Nomenclature of Domestic Bovids (ISCNDB 2000). Cytogenet Cell Genet 92: 283-299.
25. Switonski M, Gustavsson I, Ploen L (1987) The nature of the 1;29 translocation in cattle as revealed by synaptonemal complex analysis using electron microscopy. Cytogenet Cell Genet 44: 103-111.
26. Matukumalli LK, Lawley CT, Schnabel RD, Taylor JF, Allan MF, et al. (2009) Development and characterization of a high density SNP genotyping assay for cattle. PLoS One 4: e5350.
27. Liu GE, Hou Y, Zhu B, Cardone MF, Jiang L, et al. (2010) Analysis of copy number variations among diverse cattle breeds. Genome Res 20: 693-703.