Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's dis...Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung' s disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modif ier genes.展开更多
Speciation research has seen a renewed interest in ecological speciation, which emphasises divergent ecological se- lection leading to the evolution of reproductive isolation. Selection from divergent ecologies means ...Speciation research has seen a renewed interest in ecological speciation, which emphasises divergent ecological se- lection leading to the evolution of reproductive isolation. Selection from divergent ecologies means that phenotypic plasticity can play an important role in ecological speciation. Phenotypic plasticity involves the induction of phenotypes over the lifetime of an organism and emerging evidence suggests that epigenetic marks such as cytosine and protein （histone） modifications might regu- late such environmental induction. Epigenetic marks play a wide role in a variety of processes including development, sex dif- ferentiation and allocation, sexual conflict, regulation of transposable elements and phenotypic plasticity. Here we describe recent studies that investigate epigenetic mechanisms in a variety of contexts. There is mounting evidence for environmentally induced epigenetic variation and for the stable inheritance of epigenetic marks between generations. Thus, epigenetically-based pheno- typic plasticity may play a role in adaptation and ecological speciation. However, there is less evidence for the inheritance of in- duced epigenetic variation across multiple generations in animals. Currently few studies of ecological speciation incorporate the potential for the involvement of epigenetically-based induction of phenotypes, and we argue that this is an important omission [Current Zoology 59 （5）： 686-696, 2013 ].展开更多
Autism spectrum disorder(ASD) is gathering concerns in socially developed countries. ASD is a neuropsychiatric disorder of genetic origin with high prevalence of 1%–2%. The patients with ASD characteristically show i...Autism spectrum disorder(ASD) is gathering concerns in socially developed countries. ASD is a neuropsychiatric disorder of genetic origin with high prevalence of 1%–2%. The patients with ASD characteristically show impaired social skills. Today, many genetic studies identify numerous susceptible genes and genetic loci associated with ASD. Although some genetic factors can lead to abnormal brain function linked to ASD phenotypes, the pathogenic mechanism of ASD is still unclear. Here, we discuss a new mouse model for ASD as an advanced tool to understand the mechanism of ASD.展开更多
基金Supported by The National Health and Medical Research Council of Australia to Anderson RB: Project grant, No. 509219a CDA Fellowship, No. 454773
文摘Hirschsprung's disease is a congenital disorder that occurs in 1:5000 live births. It is characterised by an absence of enteric neurons along a variable region of the gastrointestinal tract. Hirschsprung's disease is classified as a multigenic disorder, because the same phenotype is associated with mutations in multiple distinct genes. Furthermore, the genetics of Hirschsprung's disease are highly complex and not strictly Mendelian. The phenotypic variability and incomplete penetrance observed in Hirschsprung' s disease also suggests the involvement of modifier genes. Here, we summarise the current knowledge of the genetics underlying Hirschsprung's disease based on human and animal studies, focusing on the principal causative genes, their interactions, and the role of modif ier genes.
文摘Speciation research has seen a renewed interest in ecological speciation, which emphasises divergent ecological se- lection leading to the evolution of reproductive isolation. Selection from divergent ecologies means that phenotypic plasticity can play an important role in ecological speciation. Phenotypic plasticity involves the induction of phenotypes over the lifetime of an organism and emerging evidence suggests that epigenetic marks such as cytosine and protein （histone） modifications might regu- late such environmental induction. Epigenetic marks play a wide role in a variety of processes including development, sex dif- ferentiation and allocation, sexual conflict, regulation of transposable elements and phenotypic plasticity. Here we describe recent studies that investigate epigenetic mechanisms in a variety of contexts. There is mounting evidence for environmentally induced epigenetic variation and for the stable inheritance of epigenetic marks between generations. Thus, epigenetically-based pheno- typic plasticity may play a role in adaptation and ecological speciation. However, there is less evidence for the inheritance of in- duced epigenetic variation across multiple generations in animals. Currently few studies of ecological speciation incorporate the potential for the involvement of epigenetically-based induction of phenotypes, and we argue that this is an important omission [Current Zoology 59 （5）： 686-696, 2013 ].
基金supported in part by a grant from Japan Society for the Promotion of Science and Ministry of Education,Culture,Sports,Science and Technology KAKENHI,Core Research for Evolutional Science and Technology,Strategic International Cooperative Program of Japan Science and Technology Agency,and by research grants from Takeda Science Foundation,the Naito Foundation and Terumo Life Science Foundation
文摘Autism spectrum disorder(ASD) is gathering concerns in socially developed countries. ASD is a neuropsychiatric disorder of genetic origin with high prevalence of 1%–2%. The patients with ASD characteristically show impaired social skills. Today, many genetic studies identify numerous susceptible genes and genetic loci associated with ASD. Although some genetic factors can lead to abnormal brain function linked to ASD phenotypes, the pathogenic mechanism of ASD is still unclear. Here, we discuss a new mouse model for ASD as an advanced tool to understand the mechanism of ASD.
