Article
Genomic imprinting at a boundary element flanking the SDHD locus.
Human molecular genetics - 15 Nov 2011
Baysal Bora E, McKay Sharen E, Kim Yoon Jung, Zhang Zimei, Alila Linda, Willett-Brozick Joan E, Pacak Karel, Kim Tae Hoon, Shadel Gerald S
Abstract excerpt
Germline mutations in SDHD, a mitochondrial complex II (succinate dehydrogenase) subunit gene at chromosome band 11q23, cause highly penetrant paraganglioma (PGL) tumors when transmitted through fathers. In contrast, maternal transmission rarely, if ever, leads to tumor development. The mechanism underlying this unusual monogenic tumor predisposition pattern is poorly understood. Here, we describe identification...
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