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Genomic organization and FISH mapping of human Pmel 17, the putative silver locus

Cited 9 time in Web of Science Cited 9 time in Scopus
Authors
Kim, K.-K.; Youn, B.-S.; Heng, H.H.Q.; Shi, X.M.; Lee, Z.H.; Kwon, B.S.; Pickard, R.T.; Tsui, L.-C.
Issue Date
1996
Publisher
Wiley-Blackwell
Citation
Pigment Cell Research, Vol.9, No.1, pp.42-48
Keywords
Chromosomal locationFISH mappingHuman Pmel 17 genecis-Transcription elementsChromosome 12 q12-q13
Abstract
The Pmel 17 gene is expressed preferentially in pigment cells. It has been mapped to human chromosome 12 pter-q21 and mouse chromosome 10, near the silver locus. The Pmel 17 gene contains an insertional mutation at its carboxyl terminus in the silver mouse, suggesting that the silver locus might correspond to the gene. In the current studies, we have isolated and characterized human Pmel 17 genomic clones and employed FISH mapping for a precise localization of this gene in the human chromosome. The FISH mapping placed the Pmel 17 gene at human chromosome 12 q12-q13. The human gene consists of nine exons and eight introns, and the entire coding region of the gene spans approximately 7.9 kb of the human chromosome 12. The putative functional domains, such as the signal sequence, histidine-rich, 26-amino acid repeats, cysteine-rich, transmembrane and cytoplasmic domains, were encoded by separate exons. Cis-transcription elements such as a TATA, a CAT and other potential elements for pigment cell-specific gene expression were found within 1100 base pairs of the 5' flanking region.
ISSN
0893-5785
Language
English
URI
http://hdl.handle.net/10371/81034
DOI
https://doi.org/10.1111/j.1600-0749.1996.tb00085.x
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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