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Zusammenfassung: <jats:title>ABSTRACT</jats:title><jats:p>The major histocompatibility complex (MHC) represents a multigene family that is known to display allelic and gene copy number variations. Primate species such as humans, chimpanzees (<jats:italic>Pan troglodytes</jats:italic>), and rhesus macaques (<jats:italic>Macaca mulatta</jats:italic>) show<jats:italic>DRB</jats:italic>region configuration polymorphism at the population level, meaning that the number and content of<jats:italic>DRB</jats:italic>loci may vary per haplotype. Introns of primate<jats:italic>DRB</jats:italic>alleles differ significantly in length due to insertions of transposable elements as long endogenous retrovirus (ERV) and human ERV (HERV) sequences in the<jats:italic>DRB2</jats:italic>,<jats:italic>DRB6</jats:italic>, and<jats:italic>DRB7</jats:italic>pseudogenes. Although the integration of intronic HERVs resulted sooner or later in the inactivation of the targeted genes, the fixation of these endogenous retroviral segments over long time spans seems to have provided evolutionary advantage. Intronic HERVs may have integrated in a sense or an antisense manner. On the one hand, antisense-oriented retroelements such as HERV-K14I, observed in intron 2 of the<jats:italic>DRB7</jats:italic>genes in humans and chimpanzees, seem to promote stability, as configurations/alleles containing these hits have experienced strong conservative selection during primate evolution. On the other hand, the HERVK3I present in intron 1 of all<jats:italic>DRB2</jats:italic>and/or<jats:italic>DRB6</jats:italic>alleles tested so far integrated in a sense orientation. The data suggest that multigenic regions in particular may benefit from sense introgressions by HERVs, as these elements seem to promote and maintain the generation of diversity, whereas these types of integrations may be lethal in monogenic systems, since they are known to influence transcript regulation negatively.</jats:p>
Umfang: 6667-6677
ISSN: 0022-538X
1098-5514
DOI: 10.1128/jvi.00097-08