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Human PEG1/MEST, an imprinted gene on chromosome 7
S Kobayashi1, T Kohda, N Miyoshi
1Gene Research Center, Tokyo Institute of Technology, Midori-ku, Yokohama, Japan.
Human Molecular Genetics
|May 1, 1997
Summary
The paternally expressed gene PEG1/MEST is imprinted and located on human chromosome 7. This gene is a candidate for causing primordial growth retardation, such as Silver-Russell syndrome.
Area of Science:
- Genetics
- Developmental Biology
- Genomic Imprinting
Background:
- The mouse Peg1/Mest gene is an imprinted gene, highly expressed in mesodermal tissues during early embryonic development.
- It was the most abundant among eight paternally expressed genes identified in mice.
- Homologous regions in humans suggest a role for imprinted genes in growth regulation.
Purpose of the Study:
- To identify and characterize the human ortholog of the mouse Peg1/Mest gene.
- To determine the chromosomal location and imprinting status of human PEG1/MEST.
- To investigate its potential role in primordial growth retardation disorders like Silver-Russell syndrome.
Main Methods:
- Subtraction-hybridization technique to isolate imprinted genes from mouse embryonal cDNA library.
- Chromosomal mapping to determine the location of human PEG1/MEST.
- Analysis of imprinting status (paternal allele expression).
Main Results:
- Human PEG1/MEST is confirmed as an imprinted gene, expressed from the paternal allele.
- It is mapped to human chromosome 7q31-34, near the D7S649 marker.
- This is the first imprinted gene identified on human chromosome 7.
Conclusions:
- Human PEG1/MEST is a paternally expressed imprinted gene located on chromosome 7.
- It is a strong candidate gene for primordial growth retardation, including Silver-Russell syndrome.
- The findings highlight the importance of imprinted genes in human growth and development.