The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


 

Detailed entry for Gene:

Dlk1 and DAT

Chromosome:

Human Chr14q32
Mouse Chr12 (distal)
Sheep Chr18q

Links:

OMIM

Imprinting:

The maternal allele of Dlk1 is silent; the paternal allele expressed in mice (Schmidt JV et al, 2000; Takada S et al, 2000), humans (Wylie AA et al, 2000) and sheep (Charlier C et al, 2001; Charlier C et al, 2001). Dlk1 and Gtl2 are closely linked and expressed from opposite alleles. DAT denotes "Dlk-associated transcripts", which are low-abundance (?) non-coding RNAs that are detected as ESTs near the ovine and human DLK1 loci and that, like Dlk1, are maternally silenced.

Gene Product:

Delta-like: transmembrane protein with multiple EGF-repeats. These structure is similar to ligands for Notch signaling. Although there are discrepancies in different studies, Dlk1 appears to be expressed in many fetal and adult tissues, including endocrine organs (Schmidt JV et al, 2000; Takada S et al, 2000; Tornehave D et al, 1996); it is strongly expressed in skeletal muscle in sheep (Charlier C et al, 2001; Charlier C et al, 2001).

Functional Data:

Dlk1 protein inhibits adipocyte differentiation and alters haematopoietic cell differentiation in culture (Garces C et al, 1999; Ohno N et al, 2001). Dlk1 and other imprinted genes, including Meg3/Gtl2, map to the Callipyge locus of sheep. The Callipyge trait of skeletal muscle hypertrophy appears to result from dysregulation of multiple genes in this imprinted domain (Charlier C et al, 2001; Charlier C et al, 2001). The DLK1 gene is over-expressed in muscle from Callipyge sheep (Charlier C et al, 2001; Charlier C et al, 2001). Multiple abnormalities including scoliosis and growth retardation are seen in human maternal UPD 14, but the imprinted gene(s) that are responsible for these effects are not known (Sutton VR et al, 2000).

 

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