کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1942251 1052598 2013 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک دانش گیاه شناسی
پیش نمایش صفحه اول مقاله
Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors
چکیده انگلیسی

Germ line heterozygous mutations in the structural subunit genes of mitochondrial complex II (succinate dehydrogenase; SDH) and the regulatory gene SDHAF2 predispose to paraganglioma tumors which show constitutive activation of hypoxia inducible pathways. Mutations in SDHD and SDHAF2 cause highly penetrant multifocal tumor development after a paternal transmission, whereas maternal transmission rarely, if ever, leads to tumor development. This transmission pattern is consistent with genomic imprinting. Recent molecular evidence supports a model for tissue-specific imprinted regulation of the SDHD gene by a long range epigenetic mechanism. In addition, there is evidence of SDHB mRNA editing in peripheral blood mononuclear cells and long-term balancing selection operating on the SDHA gene. Regulation of SDH subunit expression by diverse epigenetic mechanisms implicates a crucial dosage-dependent role for SDH in oxygen homeostasis. This article is part of a Special Issue entitled: Respiratory complex II: Role in cellular physiology and disease.


► Parent-of-origin effects in inheritance of paraganglioma tumors are discussed.
► A long range epigenetic mechanism may account for genomic imprinting of SDHD.
► Diverse regulatory mechanisms of complex II suggest a crucial role in oxygen homeostasis.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Bioenergetics - Volume 1827, Issue 5, May 2013, Pages 573–577
نویسندگان
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