Endogenous retroviruses in the human genome sequence.docVIP

/2001/2/6/reviews/1017.1 Minireview Endogenous retroviruses in the human genome sequence David J Griffiths Address: Wohl Virion Centre, Department of Immunology and Molecular Pathology, Windeyer Institute of Medical Sciences, University College London, Cleveland Street, London W1T 4J, UK. E-mail: d.j.griffiths@ucl.ac.uk Published: 5 June 2001 GenomeBiology 2001, 2(6):reviews1017.1–1017.5 The electronic version of this article is the complete one and can be found online at /2001/2/6/reviews/1017 ? BioMed Central Ltd (Print ISSN 1465-6906; Online ISSN 1465-6914) Abstract The human genome contains many endogenous retroviral sequences, and these have been suggested to play important roles in a number of physiological and pathological processes. Can the draft human genome sequences help us to define the role of these elements more closely? One of the many striking findings to come from the sequenc- ing of the human genome is that some 45% of our DNA is composed of transposable elements such as LINE and Alu retroelements and DNA transposons [1-3]. Around 8% of the genome is derived from sequences with similarity to infec- tious retroviruses, which can be easily recognized because all infectious retroviruses contain at least three genes, including gag (encoding structural proteins), pol (viral enzymes), and env (surface envelope proteins), as well as long terminal repeats (LTRs; see igure 1). The existence of human endogenous retroviruses (HERVs) has been known for many years [4], but their abundance in the genome was not pre- dicted by earlier studies. HERVs represent the remnants of ancestral retroviral infections that became fixed in the germline DNA. Subsequent retrotransposition events ampli- fied these sequences to a high load within the genome. The drafts of the human genome have provided a wealth of infor- mation about the abundance and distribution of HERVs, and several new subtypes have been ide