An anthropoid-specific segmental duplication on human chromosome 1q22.
Segmental duplications (SDs) play a key role in genome evolution by providing material for gene diversification and creation of variant or novel functions. They also mediate recombinations, resulting in microdeletions, which have occasionally been associated with human genetic diseases. Here, we present a detailed analysis of a large genomic region (about 240 kb), located on human chromosome 1q22, that contains a tandem SD, SD1q22. This duplication occurred about 37 million years ago in a lineage leading to anthropoid primates, after their separation from prosimians but before the Old and New World monkey split. We reconstructed the hypothetical unduplicated ancestral locus and compared it with the extant SD1q22 region. Our data demonstrate that, as a consequence of the duplication, new anthropoid-specific genetic material has evolved in the resulting paralogous segments. We describe the emergence of two new genes, whose new functions could contribute to the speciation of anthropoid primates. Moreover, we provide detailed information regarding structure and evolution of the SD1q22 region that is a prerequisite for future studies of its anthropoid-specific functions and possible linkage to human genetic disorders.
Department of Molecular Genome Analysis, DKFZ-German Cancer Research Center, INF 580, D-69120 Heidelberg, Germany.
Vladimir Yu
VY
Kuryshev
Eugene
E
Vorobyov
Dorothea
D
Zink
Jürgen
J
Schmitz
Timofey S
TS
Rozhdestvensky
Ewald
E
Münstermann
Ute
U
Ernst
Ruth
R
Wellenreuther
Petra
P
Moosmayer
Stephanie
S
Bechtel
Ingo
I
Schupp
Jürgen
J
Horst
Bernhard
B
Korn
Annemarie
A
Poustka
Stefan
S
Wiemann
D000818:Animals; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D056970:Co-Repressor Proteins; D004247:DNA / Q000378:metabolism; D004268:DNA-Binding Proteins; D019143:Evolution, Molecular; D020440:Gene Duplication; D020131:Genes, Duplicate; D006801:Humans; D008957:Models, Genetic; D051078:Platyrrhini / Q000235:genetics; D011323:Primates / Q000235:genetics*; D012313:RNA / Q000378:metabolism; D016601:RNA-Binding Proteins; D012269:Ribosomal Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA; D013045:Species Specificity; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
D051017:Apoptosis Regulatory Proteins; D056970:Co-Repressor Proteins; C097041:DAP3 protein, human; D004268:DNA-Binding Proteins; C514882:GON4L protein, human; D016601:RNA-Binding Proteins; D012269:Ribosomal Proteins; D014157:Transcription Factors; D012313:RNA; D004247:DNA