Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: First evidence of polar overdominance in humans

European Journal of Human Genetics

Volumn 16, Issue 9, 2008, Pages 1126-1134

  Wermter, Anne Kathrin ^a   Scherag, André ^a,b   Meyre, David ^c   Reichwald, Kathrin ^b,d   Durand, Emmanuelle ^c   Nguyen, Thuy Trang ^a   Koberwitz, Kerstin ^e   Lichtner, Peter ^e   Meitinger, Thomas ^e,f   Schäfer, Helmut ^a   Hinney, Anke ^b   Froguel, Philippe ^c,g   Hebebrand, Johannes ^b   Brönner, Günter ^b  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF DUISBURG ESSEN   (Germany)

^c CNRS   (France)

^d FRITZ LIPMANN INSTITUTE   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DELTA LIKE 1 HOMOLOGUE PROTEIN; NOTCH RECEPTOR;

ADIPOGENESIS; ADOLESCENT; ALLELE; ARTICLE; BODY WEIGHT; CHILD; CHROMOSOME 14; DOMINANT INHERITANCE; FEMALE; FRANCE; GENE FUNCTION; GENE MUTATION; GENE TRANSFER; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME IMPRINTING; GENOTYPE; GERMANY; HUMAN; MAJOR CLINICAL STUDY; MALE; OBESITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; VERTICAL TRANSMISSION;

ADOLESCENT; ALLELES; ANIMALS; CHILD; DISEASE MODELS, ANIMAL; FATHERS; FEMALE; GENES, DOMINANT; GENOMIC IMPRINTING; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MOTHERS; OBESITY; SHEEP; SUS SCROFA;

ANIMALIA; EUTHERIA; OVIS ARIES;

EID: 50149083052     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.64     Document Type: Article

References (32)

1. Weidman JR, Maloney KA, Jirtle RL: Comparative phylogenetic analysis reveals multiple non-imprinted isoforms of opossum Dlk1. Mamm Genome 2006; 17: 157-167.
2. Wylie AA, Murphy SK, Orton TC, Jirtle RL: Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation Genome Res 2000; 10: 1711-1718.
3. Smas CM, Kachinskas D, Liu CM, Xie X, Dircks LK, Sul HS: Transcriptional control of the pref-1 gene in 3T3-L1 adipocyte differentiation. Sequence requirement for differentiation-dependent suppression. J Biol Chem 1998; 273: 31751-31758.
4. Smas CM, Sul HS: Pref-1, a protein containing EGF-like repeats, inhibits adipocyte differentiation. Cell 1993; 73: 725-734.
5. Smas CM, Chen L, Zhao L, Latasa MJ, Sul HS: Transcriptional repression of pref-1 by glucocorticoids promotes 3T3-L1 adipocyte differentiation. J Biol Chem 1999; 274: 12632-12641.
6. Lee K, Villena JA, Moon YS et al: Inhibition of adipogenesis and development of glucose intolerance by soluble preadipocyte factor-1 (Pref-1). J Clin Invest 2003; 111: 453-461.
7. Moon YS, Smas CM, Lee K et al: Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity. Mol Cell Biol 2002; 22: 5585-5592.
8. Freking BA, Keele JW, Nielsen MK, Leymaster KA: Evaluation of the ovine callipyge locus: II. Genotypic effects on growth, slaughter, and carcass traits. J Anim Sci 1998; 76: 2549-2559.
9. Freking BA, Murphy SK, Wylie AA et al: Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. Genome Res 2002; 12: 1496-1506.
10. Cockett NE, Jackson SP, Shay TL et al: Polar overdominance at the ovine callipyge locus. Science 1996; 273: 236-238.
11. Davis E, Jensen CH, Schroder HD et al: Ectopic expression of DLK1 protein in skeletal muscle of padumnal heterozygotes causes the callipyge phenotype. Curr Biol 2004; 14: 1858-1862.
12. Kim KS, Kim JJ, Dekkers JC, Rothschild MF: Polar overdominant inheritance of a DLK1 polymorphism is associated with growth and fatness in pigs. Mamm Genome 2004; 15: 552-559.
13. Hebebrand J, Himmelmann GW, Heseker H, Schafer H, Remschmidt H: Use of percentiles for the body mass index in anorexia nervosa: Diagnostic, epidemiological, and therapeutic considerations. Int J Eat Disord 1996; 19: 359-369.
14. Bouatia-Naji N, De Graeve F, Brönner G et al: INS VNTR is not associated with childhood obesity in 1,023 families: A family-based study. Obesity 2008, (In press).
15. WiggDnton JE, Abecasis GR: PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 2005; 21: 3445-3447.
16. Ye S, Dhillon S, Ke X, Collins AR, Day IN: An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res 2001; 29: E88.
17. O'CoAnell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63: 259-266.
18. Hinney A, Schmidt A, Nottebom K et al: Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J Clin Endocrinol Metab 1999; 84: 1483-1486.
19. Dudbridge F: Pedigree disequilibrium tests for multilocus haplo-types. Genet Epidemiol 2003; 25: 115-121.
20. Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
21. Weinberg CR: Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet 1999; 65 229-235.
22. Infante-Rivard C, Weinberg CR: Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns. Am J Epidemiol 2005; 162: 891-897.
23. Cordell HJ, Barratt BJ, Clayton DG: Case/pseudocontrol analysis in genetic association studies: A unified framework for detection of genotype and haplotype associations, gene-gene and gene-environment interactions, and parent-of-origin effects. Genet Epidemiol 2004; 26: 167-185.
24. BarreAt JC, Fry B, Maller J, Daly MJ: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21 263-265.
25. Gabriel SB, Schaffner SF, Nguyen H et al: The structure of haplotype blocks in the human genome. Science 2002; 296: 2225-2229.
26. Becker T, Knapp M: A powerful strategy to account for multiple testing in the context of haplotype analysis. Am J Hum Genet 2004; 75 561-570.
27. Charlier C, Segers K, Karim L et al: The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status. Nat Genet 2001; 27 367-369.
28. Takada S, Paulsen M, Tevendale M et al: Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: Implications for imprinting control from comparison with Igf2-H19. Hum Mol Genet 2002; 11: 77-86.
29. Freking BA, Keele JW, Beattie CW et al: Evaluation of the ovine callipyge locus: I. relative chromosomal position and gene action. J Anim Sci 1998; 76: 2062-2071.
30. Tamashiro KL, Wakayama T, Akutsu H et al: Cloned mice have an obese phenotype not transmitted to their offspring. Nat Med 2002; 8: 262-267.
31. Humpherys D, Eggan K, Akutsu H et al: Abnormal gene expression in cloned mice derived from embryonic stem cell and cumulus cell nuclei. Proc Natl Acad Sci USA 2002; 99: 12889-12894.
32. Devroey P, Van Steirteghem A: A review of ten years experience of ICSI. Hum Reprod Update 2004; 10: 19-28.