- Email: [email protected]
Mutants of maize
GEFIETXVORK
and do not develop the devastating myofibrosis and cardiomyopathy encountered in DMD. Moreover, single utrophin-deficient knockouts (TG-000-04-563, TG-000-04566) have only subtle derangements at the neuromuscular junctions of skeletal muscle, characterized by reduced density of acetylcholine receptors and postsynaptic folding 14,15. It has been postulated that utrophin ~nd dystrophin act synergistically, and that the former c a n compensate for dystrophin deficiency more effectively in mdx mice than DMD patients. Indeed, analysis of mdx:utrophin mutants (TG00064-573, TG.000-04-582) reveals that, although synaptic development remains unaltered, double knockouts die prematurely of severe progressive muscular dystrophy, exhibit neuromuscular and myotendinous aberrations, and abnormally coexpress myosin heavy chain isoforms within a fiber, thus contributing a more accurate murine model of human DMD (Refs 11, 12). Inactivation of the Dazlagene leads to infertility in homozygous null mice of both genders (TG-000-04-536), and unveils its critical involvement in the development and survival of germ cells in both ovary and testis. Although fertile, Dazla heterozygous males (TG-000-04-535) still exhibit reduced sperm counts and visible aberrations when compared with their wildtype counterpartsl6. Male infertility ts also noted in Hsp70-2-nuii mice (TG-00004-540) deficient in heat shock protein
70kDa2 owing to an ensuing arrest of primary spermatocytes in meiosis I. Further analysis suggests that HSP70-2 might act as a molecular chaperone in the assembly of a functional CDC2-cydin B1 complex in pachytene spermatocytes during this phase of spermatogenesis 17. Albeit fully fertile, Ptgfr-null females ( T G ~ 5 3 9 ) are devoid of prostaglandin F receptors and fail to deliver normal fetuses at temi, because of a failure of the corpora tutea to terminate progesterone production m. Conversely, Cebpt~null female mice (TG4X)0-04-560) deficient in CCAAT/enhancer binding protein [3are unexpectedly sterile: their granulosa cells fail to transgress to the luteal stage, resulting in perturbed ovarian follicle development and infertility 19. References I http://www.bis.med.jhmi.edu/Dan/ tbase/tbase.html 2 Jacohson, D. and Anagnostolxmtos, A. (1996) Trends Genet. 12, 117-118 3 Baes, M. et aL (1997) Nat. Genet. 17, 49--57 4 Tanaka, Y. et al. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 10215-10220 5 Hummler, E. et al. (1997) Proc. Natl. Acad. Sci. U. S. A.94, 11710-11715 6 Pereira, L. et al. (1997) Nat. Genet. 17, 218-222 ~' Gnarra, J.R. etaL (1997) Proc. Natl. Acad. Sci. U. S. A. 94. 9102-9107 8 Lu, J-F. et ai. (1997) Prec. Natl.
Acad. Sci. U. S. A. 94, 9366-9371 9 Lu, W. et al. (1997) Nat. Gettet. 17, 179-181 10 Shibata. H. et al. (1997)Science278, 120-123 I1 Deconinck, A.E. et al. (1997) Cell 90, 717-727 12 Gmdy, R.M. et al. (1997) Cell90, 729-738 13 Sicinski, P. et al. (1989) Science244, I578--1580 14 Grady, R.M. et aL (1997).]. Cell BioL 156, 871--882 15 Deconinck, A.E. et al. (1997)J. Cell Biol. 136, 883-894 16 Ruggiu, M. et al. (1997) Nature389, 73-77
17 Zhu, D, Dix, D.J., and Eddy, E.M. (1997) Development 124, 3007-3014 18 Sugimoto, Y. et aL (1997) Science 277, 681-683 1,9 Stemeck, E., Tessarollo, L. and Johnson, P.F. (1997) Genes Dev. 11, 2153-2162 A n n a V. A n a g n o s t o p o u l o s
[email protected] Robert B. Scharpf [email protected] Johns Hopkins Unir~ersitySchool of Medicine, 2024 East Momtment Street, Baltimore, MD 21205, USA.
BOOKs
In love with maize Mutants of Maize by Gerald M. Neuffer, Edward H. Coe and Susan R. Wessler Cold SpringHarbor LaboratoryPress, 1997. US$100.00 pbk (xii + 468 pages) ISI~ 0 87969 444 0 I confess to having loved maize only. The reason I agreed to review the channing and informative picture book The Mutants of Maize is so that 1
wouldn't have to suffer the indignity of paying for a copy. All plant geneticists and all science libraries should own this book, or the CD-ROM. The heart of The Mutants of Maize is Chapter 2 (about a third of the book) in which each of the 10 maize chromosomes is explored, stopping approximately every eight map units to focus on diagnostic phenes characterizing the
mutant alleles that define the genes. For example, at tassel seed2 (on chromosome 1, short arm at position 24 i.e. 1S-24) is a photograph of a bizarre tassel, the male flower, covered with heavy female 'seeds and adorned with silks, ,~a the plant looks as though it has a 'broken neck'. This photograph is one of four on the page. Two map units away (and on the next page) are photographs of seedling leaves of homozygotes-recessive mutants at high chlorophyllflu orescence3 ( 1S-26) taken under long-wave UV light; the figure legend describes how the red glow derives "riG DECEMBER1997 VOL. 13 NO. 12
from build up of intermediates because the PSll complex of the chloroplast thylocoid membrane is missing. Phenotypes for 21 genes are highlighted on chromosome 1, all in 23 pages. Some of the genes located on chromosome 1 have a special meaning to me. Rougb sbeatb2(IS-56) is currently the object of much competition and squabbling because it probably controls the expression of dassl homeobox genes; the photograph is beautiful. The dominant mutant phenotype, vestigial glume (mutant allele Vgl-R, 1L-85), which is so cleady displayed here, 1 know to be caused by programmed cell death because of research in my laboratory. The photograph of a D8 plant (dSgene, 1L-132) shows the results of being unable to respond to the plant growth hormone giberellic acid, and 1 know the strange alleles of this gene extremely welt; there are alleles that confer subtle dwarfism but remain completely unresponsive to the
B O OKS hormone. Even animal geneticists know of Knottedl (1L-133), encoding the first homeodomain protein to be found in pl."nts. And then there is Adhl, 'my first' gene. Here I am at position 134 on the first chromosome, overcome so soon! Any of the approximately 500 maize genetidsts would start their strolLsthrough the genome and be overcome at different points on the map. There is the rest of 1L and the nine other ~ of the A set, the B chromosomes, and the extensive chromosomal interchange stocks, the cytogenetic maps, and the powerful transposon systems. In Chapter 3, each reference mutant allele is described in words, with extensive references, with a dateline cf about two years ago. Some of the products encoded by the genes of maize operate in known pathways or networks (Chapter 4), and several of these genes include a cloned and sequenced wild-type eDNA copy (Chapter 5). Perhaps I've assumed too much. Beginning a stroll at the telomere on 1S, and appreciating mutant phenotypc:s as they come up assumed that the reader already knows the meaning of 'normal'. The Introduction and Chapter 1 describe the maize genetics community and its resources, the logical beauty of the genetic approach, nomenclature, a cursory description of the 'normal' biology of the maize plant, and display the genetic and cytogenetic maps. Another colossal project, The Maize Handbook I is certainly more complete in
iiii
its description of maize as a system, and complements this volume excellemly, but these first chapters will be useful for those not intimate with maize. The photography is always competent and often beautiful. This part of the Mutants of Maize is timeless, unique and informs the reader about maize genetics in a way closer to the inductive source of this discipline than any other publication. Every plant geneticist should have this volume close at hand or online. Not being a gentleman allows me to speak candidly about my first love. There is something disturbingly incomplete about Tbe Mutants of Maize. Maize (Zea mays) is a domesticated group of races of the teosinte genus, which themselves belong to a tribe of the grass family of monocots. Among plants, maize is the best-known genetically, and is becoming better known daily, especially bemuse of the reverse genetic technology afforded by 2~u and other transposon systems (not mentioned in this volume). However, other grasses, such as barley, rice, and wheat, have extensive mutant collections, maps, genetic tools and the like. All grasses apparently have the same genes in about the same chromosomal order2. Do barley mutants and maize mutants of the same gene have phenotypes that make some sense? Any true lover of plato biology should want to know this. Does the fact that haploid maize has two nearly complete genomes - two genes for each one of rice or barley, for example - affect
Transgenics revisited TransgenicAnimals: Generation and Use editedby LM. Houdebine Harwood Academic Publishers, 1997. US$90.00/£59.00 pbk (xxii + 576 pages) ISBN 90 5702 069 6 Transgenic animals have come a long way since their first establishment in the early 1980s, and constant progress has been made in the area of gene transfer into cells and whole organisms. Today, the generation of transgenic animals is of fundamental importance for the analysis of gene regulation and function, and the knowledge gained from transgenic experiments has contributed enormously to the molecular understanding of normal animal development and disease. Transgenic animals not only provide models for human diseases, they are also useful for the production of biomedically importam proteins. The applications of transgenic technology are almost unlimited and there is not one particular animal species that would be the 'ideal'
animal model for all purposes. Therefore, transgenic technology has been extended to various species, and different organisms have proven to fulfill the needs required for basic and applied science. Many books and reviews have been written on transgenic animals, but usually they are restricted to one species and they often suffer from being too 'general' or too 'technical'. This book is one of the first attempts to try to bring together the knowledge and applications of transgenic technology from different organisms, ranging from flies to mammals, and from birds to frogs and fish. The 83 individual chapters, which are grouped in different sections, dc~alfirst with the techniques and methods for generating transgenic animals. "FIG DEC~BER 1997 VOL. 13 No. 12
c~:~#,t © t997F.t~.-x.r ~io~,:u,t .stlnghc,,~-,~.,,.,,aot~-9~z~9~/s]Tm
501
the way this comparison might be accomp'Lhed? If we could stroll down maize 1L and the homologous chromosome segments of other gras.~s at the ~me time, I believe we would have insights that would blow our minds. I strongly recommend that the authors, and Cold Spring Harbor Laboratory Pr~,s, investigate a way that these photographs, descriptions of maize mutants, their molecular 'causes' and citations might be updated, being two years out-of-date already, and placed within a format where map-based interspecies comparisons might be made. Maize is not diminished because it is but one of 10 000 species of grass, and this important volume is not diminished by casting it as the beginning of a larger, more glorious, more inclusive project. Which is all the more reason to buy and study The Mutants of Maize.
ltefetem'es i Freeling, M. and Waibot, V., eds (1994) The Maize Handbook, Springer-Vedag 2 Moore, G. et aL (I995) Trends Genet. 11, 8I--82
MichaelFreeling [email protected] Department of Plant and MicrobialBiologd; Uniuersityof Cafifomia at Berkele3; 111Kosbland Hall, Bedeel~; CA 94720-3102, USA.
Explanations and reasons are given for using one or the other animal species. The fate of the injected DNA and also the vectors used for generating transgenics are described. Problems associated with the control of gene expression in transgenie animals, particularly connected with the application in gene therapy, as well as the recent development of methods for inducible gene expression and tissue-specific gene deIetion are discussed. Selected examples regarding the usefulness of transgenic technology for the study of gene function, the generation of animal models for biomedical and pharmaceutical studies, the production of biomedically important recombinant proteins and the improvement or"livestock are listed. Tllroughout the chapters it is evident that one of the major breakthroughs was the application of homologous recombination in embryonic stem (ES) cells to introduce, at will, any kind of mutation in the genome of an organism. This strategy can be applied to the m o u ~ , which is the only animal species from which ES cells have been isolated so far, but there are serious efforts to isolate ES cells from other , ~ d e s . Finally, legal
and do not develop the devastating myofibrosis and cardiomyopathy encountered in DMD. Moreover, single utrophin-deficient knockouts (TG-000-04-563, TG-000-04566) have only subtle derangements at the neuromuscular junctions of skeletal muscle, characterized by reduced density of acetylcholine receptors and postsynaptic folding 14,15. It has been postulated that utrophin ~nd dystrophin act synergistically, and that the former c a n compensate for dystrophin deficiency more effectively in mdx mice than DMD patients. Indeed, analysis of mdx:utrophin mutants (TG00064-573, TG.000-04-582) reveals that, although synaptic development remains unaltered, double knockouts die prematurely of severe progressive muscular dystrophy, exhibit neuromuscular and myotendinous aberrations, and abnormally coexpress myosin heavy chain isoforms within a fiber, thus contributing a more accurate murine model of human DMD (Refs 11, 12). Inactivation of the Dazlagene leads to infertility in homozygous null mice of both genders (TG-000-04-536), and unveils its critical involvement in the development and survival of germ cells in both ovary and testis. Although fertile, Dazla heterozygous males (TG-000-04-535) still exhibit reduced sperm counts and visible aberrations when compared with their wildtype counterpartsl6. Male infertility ts also noted in Hsp70-2-nuii mice (TG-00004-540) deficient in heat shock protein
70kDa2 owing to an ensuing arrest of primary spermatocytes in meiosis I. Further analysis suggests that HSP70-2 might act as a molecular chaperone in the assembly of a functional CDC2-cydin B1 complex in pachytene spermatocytes during this phase of spermatogenesis 17. Albeit fully fertile, Ptgfr-null females ( T G ~ 5 3 9 ) are devoid of prostaglandin F receptors and fail to deliver normal fetuses at temi, because of a failure of the corpora tutea to terminate progesterone production m. Conversely, Cebpt~null female mice (TG4X)0-04-560) deficient in CCAAT/enhancer binding protein [3are unexpectedly sterile: their granulosa cells fail to transgress to the luteal stage, resulting in perturbed ovarian follicle development and infertility 19. References I http://www.bis.med.jhmi.edu/Dan/ tbase/tbase.html 2 Jacohson, D. and Anagnostolxmtos, A. (1996) Trends Genet. 12, 117-118 3 Baes, M. et aL (1997) Nat. Genet. 17, 49--57 4 Tanaka, Y. et al. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 10215-10220 5 Hummler, E. et al. (1997) Proc. Natl. Acad. Sci. U. S. A.94, 11710-11715 6 Pereira, L. et al. (1997) Nat. Genet. 17, 218-222 ~' Gnarra, J.R. etaL (1997) Proc. Natl. Acad. Sci. U. S. A. 94. 9102-9107 8 Lu, J-F. et ai. (1997) Prec. Natl.
Acad. Sci. U. S. A. 94, 9366-9371 9 Lu, W. et al. (1997) Nat. Gettet. 17, 179-181 10 Shibata. H. et al. (1997)Science278, 120-123 I1 Deconinck, A.E. et al. (1997) Cell 90, 717-727 12 Gmdy, R.M. et al. (1997) Cell90, 729-738 13 Sicinski, P. et al. (1989) Science244, I578--1580 14 Grady, R.M. et aL (1997).]. Cell BioL 156, 871--882 15 Deconinck, A.E. et al. (1997)J. Cell Biol. 136, 883-894 16 Ruggiu, M. et al. (1997) Nature389, 73-77
17 Zhu, D, Dix, D.J., and Eddy, E.M. (1997) Development 124, 3007-3014 18 Sugimoto, Y. et aL (1997) Science 277, 681-683 1,9 Stemeck, E., Tessarollo, L. and Johnson, P.F. (1997) Genes Dev. 11, 2153-2162 A n n a V. A n a g n o s t o p o u l o s
[email protected] Robert B. Scharpf [email protected] Johns Hopkins Unir~ersitySchool of Medicine, 2024 East Momtment Street, Baltimore, MD 21205, USA.
BOOKs
In love with maize Mutants of Maize by Gerald M. Neuffer, Edward H. Coe and Susan R. Wessler Cold SpringHarbor LaboratoryPress, 1997. US$100.00 pbk (xii + 468 pages) ISI~ 0 87969 444 0 I confess to having loved maize only. The reason I agreed to review the channing and informative picture book The Mutants of Maize is so that 1
wouldn't have to suffer the indignity of paying for a copy. All plant geneticists and all science libraries should own this book, or the CD-ROM. The heart of The Mutants of Maize is Chapter 2 (about a third of the book) in which each of the 10 maize chromosomes is explored, stopping approximately every eight map units to focus on diagnostic phenes characterizing the
mutant alleles that define the genes. For example, at tassel seed2 (on chromosome 1, short arm at position 24 i.e. 1S-24) is a photograph of a bizarre tassel, the male flower, covered with heavy female 'seeds and adorned with silks, ,~a the plant looks as though it has a 'broken neck'. This photograph is one of four on the page. Two map units away (and on the next page) are photographs of seedling leaves of homozygotes-recessive mutants at high chlorophyllflu orescence3 ( 1S-26) taken under long-wave UV light; the figure legend describes how the red glow derives "riG DECEMBER1997 VOL. 13 NO. 12
from build up of intermediates because the PSll complex of the chloroplast thylocoid membrane is missing. Phenotypes for 21 genes are highlighted on chromosome 1, all in 23 pages. Some of the genes located on chromosome 1 have a special meaning to me. Rougb sbeatb2(IS-56) is currently the object of much competition and squabbling because it probably controls the expression of dassl homeobox genes; the photograph is beautiful. The dominant mutant phenotype, vestigial glume (mutant allele Vgl-R, 1L-85), which is so cleady displayed here, 1 know to be caused by programmed cell death because of research in my laboratory. The photograph of a D8 plant (dSgene, 1L-132) shows the results of being unable to respond to the plant growth hormone giberellic acid, and 1 know the strange alleles of this gene extremely welt; there are alleles that confer subtle dwarfism but remain completely unresponsive to the
B O OKS hormone. Even animal geneticists know of Knottedl (1L-133), encoding the first homeodomain protein to be found in pl."nts. And then there is Adhl, 'my first' gene. Here I am at position 134 on the first chromosome, overcome so soon! Any of the approximately 500 maize genetidsts would start their strolLsthrough the genome and be overcome at different points on the map. There is the rest of 1L and the nine other ~ of the A set, the B chromosomes, and the extensive chromosomal interchange stocks, the cytogenetic maps, and the powerful transposon systems. In Chapter 3, each reference mutant allele is described in words, with extensive references, with a dateline cf about two years ago. Some of the products encoded by the genes of maize operate in known pathways or networks (Chapter 4), and several of these genes include a cloned and sequenced wild-type eDNA copy (Chapter 5). Perhaps I've assumed too much. Beginning a stroll at the telomere on 1S, and appreciating mutant phenotypc:s as they come up assumed that the reader already knows the meaning of 'normal'. The Introduction and Chapter 1 describe the maize genetics community and its resources, the logical beauty of the genetic approach, nomenclature, a cursory description of the 'normal' biology of the maize plant, and display the genetic and cytogenetic maps. Another colossal project, The Maize Handbook I is certainly more complete in
iiii
its description of maize as a system, and complements this volume excellemly, but these first chapters will be useful for those not intimate with maize. The photography is always competent and often beautiful. This part of the Mutants of Maize is timeless, unique and informs the reader about maize genetics in a way closer to the inductive source of this discipline than any other publication. Every plant geneticist should have this volume close at hand or online. Not being a gentleman allows me to speak candidly about my first love. There is something disturbingly incomplete about Tbe Mutants of Maize. Maize (Zea mays) is a domesticated group of races of the teosinte genus, which themselves belong to a tribe of the grass family of monocots. Among plants, maize is the best-known genetically, and is becoming better known daily, especially bemuse of the reverse genetic technology afforded by 2~u and other transposon systems (not mentioned in this volume). However, other grasses, such as barley, rice, and wheat, have extensive mutant collections, maps, genetic tools and the like. All grasses apparently have the same genes in about the same chromosomal order2. Do barley mutants and maize mutants of the same gene have phenotypes that make some sense? Any true lover of plato biology should want to know this. Does the fact that haploid maize has two nearly complete genomes - two genes for each one of rice or barley, for example - affect
Transgenics revisited TransgenicAnimals: Generation and Use editedby LM. Houdebine Harwood Academic Publishers, 1997. US$90.00/£59.00 pbk (xxii + 576 pages) ISBN 90 5702 069 6 Transgenic animals have come a long way since their first establishment in the early 1980s, and constant progress has been made in the area of gene transfer into cells and whole organisms. Today, the generation of transgenic animals is of fundamental importance for the analysis of gene regulation and function, and the knowledge gained from transgenic experiments has contributed enormously to the molecular understanding of normal animal development and disease. Transgenic animals not only provide models for human diseases, they are also useful for the production of biomedically importam proteins. The applications of transgenic technology are almost unlimited and there is not one particular animal species that would be the 'ideal'
animal model for all purposes. Therefore, transgenic technology has been extended to various species, and different organisms have proven to fulfill the needs required for basic and applied science. Many books and reviews have been written on transgenic animals, but usually they are restricted to one species and they often suffer from being too 'general' or too 'technical'. This book is one of the first attempts to try to bring together the knowledge and applications of transgenic technology from different organisms, ranging from flies to mammals, and from birds to frogs and fish. The 83 individual chapters, which are grouped in different sections, dc~alfirst with the techniques and methods for generating transgenic animals. "FIG DEC~BER 1997 VOL. 13 No. 12
c~:~#,t © t997F.t~.-x.r ~io~,:u,t .stlnghc,,~-,~.,,.,,aot~-9~z~9~/s]Tm
501
the way this comparison might be accomp'Lhed? If we could stroll down maize 1L and the homologous chromosome segments of other gras.~s at the ~me time, I believe we would have insights that would blow our minds. I strongly recommend that the authors, and Cold Spring Harbor Laboratory Pr~,s, investigate a way that these photographs, descriptions of maize mutants, their molecular 'causes' and citations might be updated, being two years out-of-date already, and placed within a format where map-based interspecies comparisons might be made. Maize is not diminished because it is but one of 10 000 species of grass, and this important volume is not diminished by casting it as the beginning of a larger, more glorious, more inclusive project. Which is all the more reason to buy and study The Mutants of Maize.
ltefetem'es i Freeling, M. and Waibot, V., eds (1994) The Maize Handbook, Springer-Vedag 2 Moore, G. et aL (I995) Trends Genet. 11, 8I--82
MichaelFreeling [email protected] Department of Plant and MicrobialBiologd; Uniuersityof Cafifomia at Berkele3; 111Kosbland Hall, Bedeel~; CA 94720-3102, USA.
Explanations and reasons are given for using one or the other animal species. The fate of the injected DNA and also the vectors used for generating transgenics are described. Problems associated with the control of gene expression in transgenie animals, particularly connected with the application in gene therapy, as well as the recent development of methods for inducible gene expression and tissue-specific gene deIetion are discussed. Selected examples regarding the usefulness of transgenic technology for the study of gene function, the generation of animal models for biomedical and pharmaceutical studies, the production of biomedically important recombinant proteins and the improvement or"livestock are listed. Tllroughout the chapters it is evident that one of the major breakthroughs was the application of homologous recombination in embryonic stem (ES) cells to introduce, at will, any kind of mutation in the genome of an organism. This strategy can be applied to the m o u ~ , which is the only animal species from which ES cells have been isolated so far, but there are serious efforts to isolate ES cells from other , ~ d e s . Finally, legal