Molecular structure and chromosomal mapping of the human homolog of the agouti gene
- Oak Ridge National Lab., TN (United States)
- Universitaet Goettingen (Germany)
- Glaxo Research Institute, Research Triangle Park, NC (United States)
- Eastern Carolina Univ., Greenville, NC (United States)
The agouti (a) locus in mouse chromosome 2 normally regulates coat color pigmentation. The mouse agouti gene was recently cloned and shown to encode a distinctive 131-amino acid protein with a consensus signal peptide. Here the authors describe the cloning of the human homolog of the mouse agouti gene using an interspecies DNA-hybridization approach. Sequence analysis revealed that the coding region of the human agouti gene is 85% identical to the mouse gene and has the potential to encode a protein of 132 amino acids with a consensus signal peptide. Chromosomal assignment using somatic-cell-hybrid mapping panels and fluorescence in situ hybridization demonstrated that the human agouti gene maps to chromosome band 20q11.2. This result revealed that the human agouti gene is closely linked to several traits, including a locus called MODY (for maturity onset diabetes of the young) and another region that is associated with the development of myeloid leukemia. Initial expression studies with RNA from several adult human tissues showed that the human agouti gene is expressed in adipose tissue and testis.
- Sponsoring Organization:
- USDOE
- DOE Contract Number:
- AC05-84OR21400
- OSTI ID:
- 86527
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America, Vol. 91, Issue 21; Other Information: PBD: 11 Oct 1994
- Country of Publication:
- United States
- Language:
- English
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