Current Genomics, Vol. 6, No. 2, 2005
Contents
Avian Genomes: Important Resources for Understanding
Vertebrate Biology Pp. 75-80
E.J. Smith, D. Kamara, G. Pimentel, T. Geng, X. Guan, K.
Lin and S. Hartman
Of Man in Mouse: Modelling Human Cancer
Genotype-Phenotype Correlations in Mice Pp. 81-88
Maria Perez-Caro, Pedro A. Perez-Mancera, Felipe Voces
and Isidro Sanchez-Garcia
Transgenic Mouse Models of BCR/ABL-Positive Chronic
Myelogenous Leukemia: A Review Pp. 89-95
Koiti Inokuchi
Developmental and Biological Insights Obtained from Gene
Expression Profiling of the Nematode Caenorhabditis Elegans Pp. 97-107
Kaja Reisner, Suvi Asikainen, Suvi Vartiainen and Garry Wong
The Genetics Characteristics of HLA Alleles and
Haplotypes in the Shanghai Han Population Pp. 109-114
M.L. Feng, J.H. Xie, Q. Lu, Y. Ji, X.J. Guo, J.H. Yang,
J.L. Sun, D.Z. Liu and K.C. Qian
Pharmacogenetics of Drugs Influencing Lipidic Metabolism
Pp. 115-126
J. Ruano, F. Fuentes, F. Perez-Jimenez and J. Lopez-Miranda
Abstracts
[Back to top]
Avian Genomes: Important Resources for Understanding Vertebrate Biology
E.J. Smith, D. Kamara, G. Pimentel, T. Geng, X. Guan, K. Lin and S. Hartman
The recent completion of the draft of the chicken genome sequence, the first for an agriculturally important animal species, confirms the utility of this extensively-studied and most understood avian species, as well as the utility of other little-studied birds in vertebrate biology and human medicine. The emerging information from the chicken genome is expected to increase our understanding of phenomena important in human biology and that of other avian and livestock species. Insight into the genomes of the chicken and other birds may help us validate and also discover genetic mechanisms that underlie many important human diseases and conditions. An understanding of the budgerigar genome, for example, may provide information about the molecular mechanisms that influence the budgie’s apparent resistance to oxidative stress. Similarly, our understanding of the turkey genome may help us define the relationship between oxidative stress and dilated cardiomyopathy in humans and other species. In this review, we will discuss the progress in avian genomics and provide a road map about where this progress will lead in the broad area of comparative genomics and our understanding of medically and biologically important phenomena.
[Back to top]
Of Man in Mouse: Modelling Human Cancer Genotype-Phenotype Correlations in
Mice
Maria Perez-Caro, Pedro A. Perez-Mancera, Felipe Voces and Isidro Sanchez-Garcia
[Back to top] Transgenic
Mouse Models of BCR/ABL-Positive Chronic Myelogenous Leukemia: A Review
Koiti Inokuchi
There are three methods for making chronic myelogenous leukemia (CML) mouse models: xenotransplantation of primary Ph-positive CML cells into immunodeficient mice, BCR/ABL-expressing transgenic mice, and BCR/ABL retroviral bone marrow transduction and transplantation. These animal models have provided us with important new insights into the molecular pathophysiology of CML and answered directly many questions regarding this disease.
To date, The model mice using the BCR/ABL retroviral bone marrow transduction and transplantation method has provided the most valuable knowledge compared with the other two methods.
After a long history of failure, however, recent studies have reported successful establishment of making the CML-phenotype in transgenic mice. The transgenic CML mouse model now appears to be more accurate, informative and advantageous model for studying CML. This article reviews the history of BCR/ABL-expressing CML mouse models and the recent findings in the transgenic mice with the CML-phenotype.
[Back
to top] Developmental and Biological Insights
Obtained from Gene Expression Profiling of the Nematode Caenorhabditis Elegans
Kaja Reisner, Suvi Asikainen, Suvi Vartiainen and Garry
Wong
The ability to interrogate gene expression levels of an organism’s entire transcriptome has provided researchers with a powerful tool. This power has been brought to bear on biological questions in the areas of development, aging, cell biology, disease models, stress and toxicology. Many novel insights into biological processes have been obtained from these studies and have led to connections to other systems level approaches including RNA interference and bioinformatics. In this article, we review microarray studies that have used the nematode Caenorhabditis elegans. Specific considerations of C. elegans as a model organism in this context are derived and inferences based on combining microarray data sets with other model organisms are presented and discussed. Sources for obtaining microarray data as well as the microarrays themselves are listed. Finally, we take a look into the future of this remarkable and still evolving field of expression profiling in C. elegans.
[Back
to top] The Genetics Characteristics of HLA Alleles and Haplotypes in
the Shanghai Han Population
M.L. Feng, J.H. Xie, Q. Lu, Y. Ji, X.J. Guo, J.H. Yang, J.L. Sun, D.Z. Liu and K.C. Qian
Multilocus HLA haplotypes could be investigated by family analysis, and there are salient differences in the distributions of HLA alleles among different populations. In the present study, HLA –A, B and DRB1 alleles and haplotypes were investigated based on 166 families in Shanghai Han population by molecular biological HLA typing methods and the distribution characteristic of HLA alleles and haplotypes were analyzed. The results of our investigation showed that allele frequencies of more than 10% for HLA alleles were A*0201/07, A*1101, A*2402, B*4001, B*4601, DRB1*090102, DRB1*1202 and DRB1*15. In the analysis of HLA haplotypes, we identified 185 kinds of A-B haplotypes , 241 kinds of B-DRB1 haplotypes and 164 kinds of A-DRB1 haplotypes. Fifteen kinds of A-B haplotypes and 15 kinds of B-DRB1 haplotypes and 7 kinds of A-DRB1 haplotypes occurred at frequencies of more than 0.5% (linkage disequilibrium value ∆ > 0, c2>6.63). Three hundred eighty-three kinds of A-B-DRB1 haplotypes were found and 20 kinds of A-B-DRB1 haplotypes occurred at frequencies of more than 0.5% (∆ > 0). The common A-B-DRB1 haplotypes were A*3001-B*1302-DRB1*0701 (4.2%), A*0201/07-B*4601-DRB1*090102 (3.0%), A*3303-B*5801-DRB1*0301 (2.7%), A*3303-B*5801-DRB1*1301/02 (1.8%), A*1101-B*1502-DRB1*1202 (1.5%) and A*1101-B*3901-DRB1*0803 (1.1%). Comparison of the distribution of A-B-DRB haplotype among different populations revealed that Shanghai Han population has its own genetic characteristics, but are closed to East Asian populations and show more abundant polymorphism in the distribution of HLA alleles compare to East Asian populations. The result obtained in this study will be useful to provide information and instruction on Shanghai Han population for genetics, anthropology, association in diseases and forensic paternity testing. Equally encouraging is the potential benefit in helping patients search out healthy, matching hematopoietic stem cells.
[Back
to top] Pharmacogenetics of Drugs Influencing Lipidic Metabolism
J. Ruano, F. Fuentes, F. Perez-Jimenez and J. Lopez-Miranda
It is well recognized that most medications exhibit wide interindividual variability in their efficacy and toxicity. These differences may be due to genetic factors affecting the metabolism and action of these drugs, as well as to environmental factors. Genetic polymorphisms (SNPs and haplotypes) that may play a role in the differences in response to lipid lowering therapy have recently been identified, including genetic variants of apoproteins (apo AI, apo E, apo B), several enzymes (lipoprotein lipase, lecithin cholesterol acyl transferase, hepatic lipase), membrane transporters (ABCA1, ABCG5/8), and receptors (LDL cholesterol receptor). Clinical studies analysing relations between these genetic variants and the response to hypolipemiant drugs are exposed in this review.