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Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation.

Publication ,  Journal Article
Wylie, AA; Murphy, SK; Orton, TC; Jirtle, RL
Published in: Genome Res
November 2000

The evolution of genomic imprinting in mammals occurred more than 100 million years ago, and resulted in the formation of genes that are functionally haploid because of parent-of-origin-dependent expression. Despite ample evidence from studies in a number of species suggesting the presence of imprinted genes on human chromosome 14, their identity has remained elusive. Here we report the identification of two reciprocally imprinted genes, GTL2 and DLK1, which together define a novel imprinting cluster on human chromosome 14q32. The maternally expressed GTL2 (gene trap locus 2) gene encodes for a nontranslated RNA. DLK1 (delta, Drosophila, homolog-like 1) is a paternally expressed gene that encodes for a transmembrane protein containing six epidermal growth factor (EGF) repeat motifs closely related to those present in the delta/notch/serrate family of signaling molecules. The paternal expression, chromosomal localization, and biological function of DLK1 also make it a likely candidate gene for the callipyge phenotype in sheep. Many of the predicted structural and regulatory features of the DLK1/GTL2 domain are highly analogous to those implicated in IGF2/H19 imprint regulation, including two hemimethylated consensus binding sites for the vertebrate enhancer blocking protein, CTCF. These results provide evidence that a common mechanism and domain organization may be used for juxtapositioned, reciprocally imprinted genes.

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Published In

Genome Res

DOI

ISSN

1088-9051

Publication Date

November 2000

Volume

10

Issue

11

Start / End Page

1711 / 1718

Location

United States

Related Subject Headings

  • RNA, Untranslated
  • RNA, Long Noncoding
  • Protein Structure, Tertiary
  • Open Reading Frames
  • Mice
  • Membrane Proteins
  • Intracellular Signaling Peptides and Proteins
  • Insulin-Like Growth Factor II
  • Humans
  • Genomic Imprinting
 

Citation

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Wylie, A. A., Murphy, S. K., Orton, T. C., & 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(11), 1711–1718. https://doi.org/10.1101/gr.161600
Wylie, A. A., S. K. Murphy, T. C. Orton, and R. L. Jirtle. “Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation.Genome Res 10, no. 11 (November 2000): 1711–18. https://doi.org/10.1101/gr.161600.
Wylie, A. A., et al. “Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation.Genome Res, vol. 10, no. 11, Nov. 2000, pp. 1711–18. Pubmed, doi:10.1101/gr.161600.
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 Nov;10(11):1711–1718.

Published In

Genome Res

DOI

ISSN

1088-9051

Publication Date

November 2000

Volume

10

Issue

11

Start / End Page

1711 / 1718

Location

United States

Related Subject Headings

  • RNA, Untranslated
  • RNA, Long Noncoding
  • Protein Structure, Tertiary
  • Open Reading Frames
  • Mice
  • Membrane Proteins
  • Intracellular Signaling Peptides and Proteins
  • Insulin-Like Growth Factor II
  • Humans
  • Genomic Imprinting