Urbani Andrea, De Canio Michele, Palmieri Ferdinando, Sechi Salvatore, Bini Luca, Castagnola Massimo, Fasano Mauro, Modesti Alessandra, Roncada Paola, Timperio Anna Maria, Bonizzi Luigi, Brunori Maurizio, Cutruzzolà Francesca, De Pinto Vito, Di Ilio Carmine, Federici Giorgio, Folli Franco, Foti Salvatore, Gelfi Cecilia, Lauro Davide, Lucacchini Antonio, Magni Fulvio, Messana Irene, Pandolfi Pier Paolo, Papa Sergio, Pucci Piero, Sacchetta Paolo
Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
Mol Biosyst. 2013 Aug;9(8):1984-92. doi: 10.1039/c3mb70065h. Epub 2013 May 28.
Mitochondria carry maternally inherited genetic material, called the mitochondrial genome (mtDNA), which can be defined as the 25th human chromosome. The chromosome-centric Human Proteome Project (c-HPP) has initially focused its activities addressing the characterization and quantification of the nuclear encoded proteins. Following the last International HUPO Congress in Boston (September 2012) it was clear that however small the mitochondrial chromosome is, it plays an important role in many biological and physiopathological functions. Mutations in the mtDNA have been shown to be associated with dozens of unexplained disorders and the information contained in the mtDNA should be of major relevance to the understanding of many human diseases. Within this paper we describe the Italian initiative of the Human Proteome Project dedicated to mitochondria as part of both programs: chromosome-centric (c-HPP) and Biology/Disease (B/D-HPP). The mt-HPP has finally shifted the attention of the HUPO community outside the nuclear chromosomes with the general purpose to highlight the mitochondrial processes influencing the human health. Following this vision and considering the large interest and evidence collected on the non-Mendelian heredity of Homo sapiens associated with mt-chromosome and with the microbial commensal ecosystem constituting our organism we may speculate that this program will represent an initial step toward other HPP initiatives focusing on human phenotypic heredity.
线粒体携带母系遗传的遗传物质，称为线粒体基因组（mtDNA），它可被定义为第25号人类染色体。以染色体为中心的人类蛋白质组计划（c-HPP）最初将其活动重点放在核编码蛋白质的表征和定量分析上。在2012年9月于波士顿召开的上一届国际人类蛋白质组组织（HUPO）大会之后，很明显，无论线粒体染色体有多小，它在许多生物学和生理病理功能中都起着重要作用。已证明mtDNA中的突变与数十种不明原因的疾病有关，并且mtDNA中包含的信息对于理解许多人类疾病应具有重要意义。在本文中，我们描述了人类蛋白质组计划中意大利针对线粒体的倡议，它是染色体中心计划（c-HPP）和生物学/疾病计划（B/D-HPP）这两个项目的一部分。线粒体蛋白质组计划（mt-HPP）最终将HUPO社区的注意力转移到了核染色体之外，其总体目标是突出影响人类健康的线粒体过程。遵循这一愿景，并考虑到在与线粒体染色体以及构成我们机体的微生物共生生态系统相关的智人非孟德尔遗传方面收集到的大量兴趣点和证据，我们可以推测，该计划将代表朝着其他关注人类表型遗传的HPP计划迈出的第一步。
