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.
Kuryshev
Vladimir Yu
VY
Department of Molecular Genome Analysis, DKFZ-German Cancer Research Center, INF 580, D-69120 Heidelberg, Germany.
Vorobyov
Eugene
E
Zink
Dorothea
D
Schmitz
Jürgen
J
Rozhdestvensky
Timofey S
TS
Münstermann
Ewald
E
Ernst
Ute
U
Wellenreuther
Ruth
R
Moosmayer
Petra
P
Bechtel
Stephanie
S
Schupp
Ingo
I
Horst
Jürgen
J
Korn
Bernhard
B
Poustka
Annemarie
A
Wiemann
Stefan
S
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