Anouk Courseaux, Jean-Louis Nahon^*

How genes with newly characterized functions originate remains a fundamental question. PMCHL1 and PMCHL2, two chimeric genes derived from the melanin-concentrating hormone (MCH) gene, offer an opportunity to examine such an issue in the human lineage. Detailed structural, expression, and phylogenetic analysis showed that the PMCHL1 gene was created near 25 million years ago (Ma) by a complex mechanism of exon shuffling through retrotransposition of an antisense MCH messenger RNA coupled to de novo creation of splice sites. PMCHL2 arose 5 to 10 Ma by an event of duplication involving a large chromosomal region encompassing the PMCHL1 locus. The RNA expression patterns of those chimeric genes suggest that they have been submitted to strong regulatory constraints during primate evolution.

Institut de Pharmacologie Moléculaire et Cellulaire, UMR CNRS 6097, 660 route des Lucioles Sophia Antipolis 06560 Valbonne, France.
^*   To whom correspondence should be addressed. E-mail: nahonjl{at}ipmc.cnrs.fr

Evolution at the Subgene Level: Domain Rearrangements in the Drosophila Phylogeny.

Y.-C. Wu, M. D. Rasmussen, and M. Kellis (2012)
Mol. Biol. Evol. 29, 689-705
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Bs1, a New Chimeric Gene Formed by Retrotransposon-Mediated Exon Shuffling in Maize.

N. Elrouby and T. E. Bureau (2010)
Plant Physiology 153, 1413-1424
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Genomic disorders: A window into human gene and genome evolution.

C. M. B. Carvalho, F. Zhang, and J. R. Lupski (2010)
PNAS 107, 1765-1771
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Ubiquitous internal gene duplication and intron creation in eukaryotes.

X. Gao and M. Lynch (2009)
PNAS 106, 20818-20823
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Endogenous Mechanisms for the Origins of Spliceosomal Introns.

F. Catania, X. Gao, and D. G. Scofield (2009)
J. Hered. 100, 591-596
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Distinguishing Among Evolutionary Models for the Maintenance of Gene Duplicates.

M. W. Hahn (2009)
J. Hered. 100, 605-617
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mRNA Retrotransposition Coupled with 5' Inversion as a Possible Source of New Genes.

K. K. Kojima and N. Okada (2009)
Mol. Biol. Evol. 26, 1405-1420
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The Primate-specific Protein TBC1D3 Is Required for Optimal Macropinocytosis in a Novel ARF6-dependent Pathway.

E. Frittoli, A. Palamidessi, A. Pizzigoni, L. Lanzetti, M. Garre, F. Troglio, A. Troilo, M. Fukuda, P. P. Di Fiore, G. Scita, et al. (2008)
Mol. Biol. Cell 19, 1304-1316
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Abundant novel transcriptional units and unconventional gene pairs on human chromosome 22.

L. Lipovich and M.-C. King (2006)
Genome Res. 16, 45-54
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Long-Term Inheritance of the 28S rDNA-Specific Retrotransposon R2.

K. K. Kojima and H. Fujiwara (2005)
Mol. Biol. Evol. 22, 2157-2165
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Origin and Evolution of a Chimeric Fusion Gene in Drosophila subobscura, D. madeirensis and D. guanche.

C. D. Jones, A. W. Custer, and D. J. Begun (2005)
Genetics 170, 207-219
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Complex genomic rearrangements lead to novel primate gene function.

F. D. Ciccarelli, C. von Mering, M. Suyama, E. D. Harrington, E. Izaurralde, and P. Bork (2005)
Genome Res. 15, 343-351
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Patterns of Segmental Duplication in the Human Genome.

L. Zhang, H. H. S. Lu, W.-y. Chung, J. Yang, and W.-H. Li (2005)
Mol. Biol. Evol. 22, 135-141
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Serial segmental duplications during primate evolution result in complex human genome architecture.

P. Stankiewicz, C. J. Shaw, M. Withers, K. Inoue, and J. R. Lupski (2004)
Genome Res. 14, 2209-2220
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Extensive Gene Traffic on the Mammalian X Chromosome.

J. J. Emerson, H. Kaessmann, E. Betran, and M. Long (2004)
Science 303, 537-540
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Intron requirement for AFP gene expression in Trichoderma viride.

J. Xu and Z. Z. Gong (2003)
Microbiology 149, 3093-3097
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The Tre2 (USP6) oncogene is a hominoid-specific gene.

C. A. Paulding, M. Ruvolo, and D. A. Haber (2003)
PNAS 100, 2507-2511
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Segmental Duplications in Euchromatic Regions of Human Chromosome 5: A Source of Evolutionary Instability and Transcriptional Innovation.

A. Courseaux, F. Richard, J. Grosgeorge, C. Ortola, A. Viale, C. Turc-Carel, B. Dutrillaux, P. Gaudray, and J.-L. Nahon (2003)
Genome Res. 13, 369-381
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Evolution of Target Specificity in R1 Clade Non-LTR Retrotransposons.

K. K. Kojima and H. Fujiwara (2003)
Mol. Biol. Evol. 20, 351-361
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Genome-wide Detection and Analysis of Recent Segmental Duplications within Mammalian Organisms.

J.A. BAILEY and E.E. EICHLER (2003)
Cold Spring Harb Symp Quant Biol 68, 115-124
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Origin of sphinx, a young chimeric RNA gene in Drosophila melanogaster.

W. Wang, F. G. Brunet, E. Nevo, and M. Long (2002)
PNAS 99, 4448-4453
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A Novel Hybrid Open Reading Frame Formed by Multiple Cellular Gene Transductions by a Plant Long Terminal Repeat Retroelement.

N. Elrouby and T. E. Bureau (2001)
J. Biol. Chem. 276, 41963-41968
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Divergent Origins and Concerted Expansion of Two Segmental Duplications on Chromosome 16.

E. E. Eichler, M. E. Johnson, C. Alkan, E. Tuzun, C. Sahinalp, D. Misceo, N. Archidiacono, and M. Rocchi (2001)
J. Hered. 92, 462-468
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Segmental Duplications: What's Missing, Misassigned, and Misassembled---and Should We Care?.

E. E. Eichler (2001)
Genome Res. 11, 653-656
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Origin of sphinx, a young chimeric RNA gene in Drosophila melanogaster.

W. Wang, F. G. Brunet, E. Nevo, and M. Long (2002)
PNAS 99, 4448-4453
 |  Abstract »  |  Full Text »  |  PDF »