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BOOK REVIEW Molecular cytogenetic evolution of mammals .............................................. Chromosomal evolution Evolutionary Dynamics of Mammalian Karyotypes. Edited by R Stanyon and A Graphodatsky ISSN: 1424-8581 Published by: Karger, Basel, Switzerland, as Reprint of Cytogenetic and Genome Research, Vol. 137, No. 2–4, 2012, 207 pp. Price CHF: 109, h91, $128 ................. Claude Stoll .................................................................................... European Journal of Human Genetics (2013) 21, 1330; doi:10.1038/ejhg.2013.4 T his volume reviews and synthesizes the cytogenetic results obtained in the numerous studies of mammalian chromo- some evolution including the recent advances in molecular cytogenetics. The study of animal karyotypes showed that animals have a great diversity in number and morphology of chromosomes despite that their genomes are remarkably conserved. How can this conservation be resolved? This volume try to answer to this question. The first contribution of the volume, written by the Editors with a bringing of MA Ferguson-Smith, is an overview and a history of the cytogenetic techniques used in the analysis of mammalian karyotypes includ- ing the results obtained, with an emphasis on chromosome painting in mammals. Chromo- some banding (Q-, G-, R-, and C-banding) allowed the workers looking for between- species homologies. However, the homologies established between distantly related species remained speculative until the advent of molecular cytogenetics and especially chro- mosome painting in the late 1980s and early 1990s. Then it became possible to search for ancestral karyotypes, and to offer original perspectives on genome evolution in mam- mals and in other vertebrates, as well as on syntenic and associational evolution. The second contribution is devoted to genome size as the evolution of the main genome signature is its size. However, the genome size of several taxa vary over a broad range and do not correlate with the com- plexity of the organisms (the C-value para- dox). The biology of transposable elements may explain some of the molecular mechan- isms that are involved in genome size varia- tion and novelties. The other 13 contributions of the volume, written by leading experts in the field, details the cytogenetic findings in Marsupialia and Monotreme, Xenarthra, Afrotheria, Eulipo- typhla, Chiroptera, Carnivora and Pholidota, Cetartiodactyla, Perissodactyla, Sciuromorpha and Lagomorpha, Non-Sciuromorpha Roden- tia, Strepsirrhine Primates, Dermoptera and Scandentia, new-world monkeys (Platyrrhini), and Catarrhine Primates (old-world monkeys, apes and humans). In this volume, a consistent view of chromosome evolution in mammals is pro- posed. However, more work is needed as there is an insufficiency of taxa sampling. Even in the more studied mammalian orders, primates and carnivores, only a few species have been studied. The study of more species for enormous orders such as rodents and bats should be done as well for other species all over the mammalian tree, including smaller clades such as Afrotheria and Xenarthra. Painting comparisons of humans and other primates displayed that there is no molecular clock for chromosome evolution. Different rates of chromosome evolution were reported, for example, the high chromosome conservation in felids and whales, and the rapid chromosome evolution in canids, skunks, pigs, and equids. The molecular cytogenetic method com- monly used is chromosome painting. Few species, mostly primates, have been studied with higher resolution methods such as BAC- FISH (fluorescent in situ hybridization using BAC), which are able to define intrachromo- somal rearrangements and inversions. There is much work to be done at this level. However, chromosome painting has allowed a large sampling of taxa, whereas sequencing studies have been performed mainly in species of economic interest or in species that are of peculiar significance for under- standing human evolution such as the higher primates. Nonetheless, with the next-genera- tion sequencing, the number of vertebrate species sequenced will highly increase. It is probable that the integration of cytogenetic and sequencing information will be extre- mely important for resolving issues in cyto- genetics such as the reconstruction of ancestral karyotypes, the elimination of homoplasy that can plague cytogenetic reconstructions, and the distinction of con- vergent associations and homologous associations. Those searching for an answer to the question what makes us human, will not find it in this volume. However, one can imagine that understanding the forces responsible for different rates of chromosome evolution and the peculiar characteristics of the mammalian genome will be possible at the sequencing level in the near future. Will this mean that cytogenetics is no more relevant in evolu- tionary studies? The Editors of this volume do not think so, they think that a closer integration between cytogenetics and sequen- cing efforts will be necessary if cytogeneticists want to maintain their relevance in evolu- tionary studies. This book, available in hardback and in electronic format, is recommended to those interested in the evolution of the vertebrate genome and for researchers involved in mammalian evolution, comparative cytoge- netics, molecular cytogenetics, comparative genomics, primatology, and zoologyC Stoll is at the Laboratoire de Ge´ne´tique Me´dicale, Faculte´de Me´decine, University of Strasbourg, France E-mail: [email protected] European Journal of Human Genetics (2013) 21, 1330 & 2013 Macmillan Publishers Limited All rights reserved 1018-4813/13 www.nature.com/ejhg

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Page 1: Chromosomal evolution: Molecular cytogenetic evolution of mammals

BOOK REVIEW

Molecular cytogenetic evolution ofmammals. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Chromosomal evolution

Evolutionary Dynamics of Mammalian Karyotypes.Edited by R Stanyon and A GraphodatskyISSN: 1424-8581Published by: Karger, Basel, Switzerland, as Reprint of Cytogenetic and GenomeResearch, Vol. 137, No. 2–4, 2012, 207 pp. Price CHF: 109, h91, $128. . . . . . . . . . . . . . . . .

Claude Stoll

. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

European Journal of Human Genetics (2013) 21, 1330; doi:10.1038/ejhg.2013.4

This volume reviews and synthesizes thecytogenetic results obtained in the

numerous studies of mammalian chromo-some evolution including the recent advancesin molecular cytogenetics.

The study of animal karyotypes showedthat animals have a great diversity in numberand morphology of chromosomes despitethat their genomes are remarkably conserved.How can this conservation be resolved? Thisvolume try to answer to this question.

The first contribution of the volume,written by the Editors with a bringing ofMA Ferguson-Smith, is an overview and ahistory of the cytogenetic techniques used inthe analysis of mammalian karyotypes includ-ing the results obtained, with an emphasis onchromosome painting in mammals. Chromo-some banding (Q-, G-, R-, and C-banding)allowed the workers looking for between-species homologies. However, the homologiesestablished between distantly related speciesremained speculative until the advent ofmolecular cytogenetics and especially chro-mosome painting in the late 1980s and early1990s. Then it became possible to search forancestral karyotypes, and to offer originalperspectives on genome evolution in mam-mals and in other vertebrates, as well as onsyntenic and associational evolution.

The second contribution is devoted togenome size as the evolution of the maingenome signature is its size. However, thegenome size of several taxa vary over a broad

range and do not correlate with the com-plexity of the organisms (the C-value para-dox). The biology of transposable elementsmay explain some of the molecular mechan-isms that are involved in genome size varia-tion and novelties.

The other 13 contributions of the volume,written by leading experts in the field, detailsthe cytogenetic findings in Marsupialia andMonotreme, Xenarthra, Afrotheria, Eulipo-typhla, Chiroptera, Carnivora and Pholidota,Cetartiodactyla, Perissodactyla, Sciuromorphaand Lagomorpha, Non-Sciuromorpha Roden-tia, Strepsirrhine Primates, Dermoptera andScandentia, new-world monkeys (Platyrrhini),and Catarrhine Primates (old-world monkeys,apes and humans).

In this volume, a consistent view ofchromosome evolution in mammals is pro-posed. However, more work is needed asthere is an insufficiency of taxa sampling.Even in the more studied mammalian orders,primates and carnivores, only a few specieshave been studied. The study of more speciesfor enormous orders such as rodents and batsshould be done as well for other species allover the mammalian tree, including smallerclades such as Afrotheria and Xenarthra.

Painting comparisons of humans and otherprimates displayed that there is no molecularclock for chromosome evolution. Differentrates of chromosome evolution werereported, for example, the high chromosomeconservation in felids and whales, and the

rapid chromosome evolution in canids,skunks, pigs, and equids.

The molecular cytogenetic method com-monly used is chromosome painting. Fewspecies, mostly primates, have been studiedwith higher resolution methods such as BAC-FISH (fluorescent in situ hybridization usingBAC), which are able to define intrachromo-somal rearrangements and inversions. Thereis much work to be done at this level.However, chromosome painting has alloweda large sampling of taxa, whereas sequencingstudies have been performed mainly inspecies of economic interest or in speciesthat are of peculiar significance for under-standing human evolution such as the higherprimates. Nonetheless, with the next-genera-tion sequencing, the number of vertebratespecies sequenced will highly increase. It isprobable that the integration of cytogeneticand sequencing information will be extre-mely important for resolving issues in cyto-genetics such as the reconstruction ofancestral karyotypes, the elimination ofhomoplasy that can plague cytogeneticreconstructions, and the distinction of con-vergent associations and homologousassociations.

Those searching for an answer to thequestion what makes us human, will not findit in this volume. However, one can imaginethat understanding the forces responsible fordifferent rates of chromosome evolution andthe peculiar characteristics of the mammaliangenome will be possible at the sequencinglevel in the near future. Will this mean thatcytogenetics is no more relevant in evolu-tionary studies? The Editors of this volumedo not think so, they think that a closerintegration between cytogenetics and sequen-cing efforts will be necessary if cytogeneticistswant to maintain their relevance in evolu-tionary studies.

This book, available in hardback and inelectronic format, is recommended to thoseinterested in the evolution of the vertebrategenome and for researchers involved inmammalian evolution, comparative cytoge-netics, molecular cytogenetics, comparativegenomics, primatology, and zoology’

C Stoll is at the Laboratoire de GenetiqueMedicale, Faculte de Medecine, University of

Strasbourg, FranceE-mail: [email protected]

European Journal of Human Genetics (2013) 21, 1330& 2013 Macmillan Publishers Limited All rights reserved 1018-4813/13

www.nature.com/ejhg