PMID- 19404400 OWN - NLM STAT- MEDLINE DCOM- 20090807 LR - 20211020 IS - 1932-6203 (Electronic) IS - 1932-6203 (Linking) VI - 4 IP - 4 DP - 2009 TI - Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids. PG - e5288 LID - 10.1371/journal.pone.0005288 [doi] LID - e5288 AB - The human Y chromosome carries four human Y-chromosomal euchromatin/heterochromatin transition regions, all of which are characterized by the presence of interchromosomal segmental duplications. The Yq11.1/Yq11.21 transition region harbours a peculiar segment composed of an imperfectly organized tandem-repeat structure encoding four members of the double homeobox (DUX) gene family. By comparative fluorescence in situ hybridization (FISH) analysis we have documented the primary appearance of Y-chromosomal DUX genes (DUXY) on the gibbon Y chromosome. The major amplification and dispersal of DUXY paralogs occurred after the gibbon and hominid lineages had diverged. Orthologous DUXY loci of human and chimpanzee show a highly similar structural organization. Sequence alignment survey, phylogenetic reconstruction and recombination detection analyses of human and chimpanzee DUXY genes revealed the existence of all copies in a common ancestor. Comparative analysis of the circumjacent beta-satellites indicated that DUXY genes and beta-satellites evolved in concert. However, evolutionary forces acting on DUXY genes may have induced amino acid sequence differences in the orthologous chimpanzee and human DUXY open reading frames (ORFs). The acquisition of complete ORFs in human copies might relate to evolutionary advantageous functions indicating neo-functionalization. We propose an evolutionary scenario in which an ancestral tandem array DUX gene cassette transposed to the hominoid Y chromosome followed by lineage-specific chromosomal rearrangements paved the way for a species-specific evolution of the Y-chromosomal members of a large highly diverged homeobox gene family. FAU - Schmidt, Julia AU - Schmidt J AD - Institute of Human Genetics, University of Freiburg, Freiburg, Germany. FAU - Kirsch, Stefan AU - Kirsch S FAU - Rappold, Gudrun A AU - Rappold GA FAU - Schempp, Werner AU - Schempp W LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20090430 PL - United States TA - PLoS One JT - PloS one JID - 101285081 RN - 0 (DUX4L1 protein, human) RN - 0 (Homeodomain Proteins) SB - IM MH - Amino Acid Sequence MH - Animals MH - Chromosomes, Human, Y MH - *Evolution, Molecular MH - Gene Rearrangement MH - Homeodomain Proteins/*genetics MH - Hominidae MH - Humans MH - Hylobates MH - In Situ Hybridization, Fluorescence MH - Multigene Family MH - Open Reading Frames MH - Pan troglodytes MH - *Phylogeny MH - *Y Chromosome PMC - PMC2671837 COIS- Competing Interests: The authors have declared that no competing interests exist. EDAT- 2009/05/01 09:00 MHDA- 2009/08/08 09:00 PMCR- 2009/04/30 CRDT- 2009/05/01 09:00 PHST- 2009/02/26 00:00 [received] PHST- 2009/03/24 00:00 [accepted] PHST- 2009/05/01 09:00 [entrez] PHST- 2009/05/01 09:00 [pubmed] PHST- 2009/08/08 09:00 [medline] PHST- 2009/04/30 00:00 [pmc-release] AID - 09-PONE-RA-08915 [pii] AID - 10.1371/journal.pone.0005288 [doi] PST - ppublish SO - PLoS One. 2009;4(4):e5288. doi: 10.1371/journal.pone.0005288. Epub 2009 Apr 30.