Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arche...Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and downslanting and vertically narrow palpebral fissures;mild to moderate intellectual disability;behavioral difficulties;and hypertrichosis on the back.It is caused by heterozygous pathogenic variants in KMT2A.This gene has an established role in histone methylation,which explains the overlap of Wiedemann-Steiner syndrome with other chromatinopathies,a heterogeneous group of syndromic conditions that share a common trigger:The disruption of one of the genes involved in chromatin modification,leading to dysfunction of the epigenetic machinery.展开更多
The ripening of climacteric fruits,such as apple,is represented by a series of genetically programmed events orchestrated by the action of several hormones.In this study,we investigated the existence of a hormonal cro...The ripening of climacteric fruits,such as apple,is represented by a series of genetically programmed events orchestrated by the action of several hormones.In this study,we investigated the existence of a hormonal crosstalk between ethylene and auxin during the post-harvest ripening of three internationally known apple cultivars:‘Golden Delicious',‘Granny Smith'and‘Fuji'.The normal climacteric ripening was impaired by the exogenous application of 1-methylcyclopropene(1-MCP)that affected the production of ethylene and the physiological behaviour of specific ethylene-related quality traits,such as fruit texture and the production of volatile organic compounds.The application of 1-MCP induced,moreover,a de-novo accumulation of auxin.The RNA-Seq wide-transcriptome analysis evidenced as the competition at the level of the ethylene receptors induced a cultivar-dependent transcriptional re-programming.The DEGs annotation carried out through the KEGG database identified as most genes were assigned to the plant hormone signaling transduction category,and specifically related to auxin and ethylene.The interplay between these two hormones was further assessed through a candidate gene analysis that highlighted a specific activation of GH3 and ILL genes,encoding key steps in the process of the auxin homeostasis mechanism.Our results showed that a compromised ethylene metabolism at the onset of the climacteric ripening in apple can stimulate,in a cultivar-dependent fashion,an initial de-novo synthesis and de-conjugation of auxin as a tentative to restore a normal ripening progression.展开更多
文摘Wiedemann-Steiner syndrome(OMIM#605130)is a rare congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature;consistent facial features,including long eyelashes,thick or arched eyebrows with a lateral flare,wide nasal bridge,and downslanting and vertically narrow palpebral fissures;mild to moderate intellectual disability;behavioral difficulties;and hypertrichosis on the back.It is caused by heterozygous pathogenic variants in KMT2A.This gene has an established role in histone methylation,which explains the overlap of Wiedemann-Steiner syndrome with other chromatinopathies,a heterogeneous group of syndromic conditions that share a common trigger:The disruption of one of the genes involved in chromatin modification,leading to dysfunction of the epigenetic machinery.
基金supported by QLRT-2001-01492“Highquality Disease Resistant Apples for a Sustainable Agriculture”and the Agroalimentare research AGER project(grant no.2010-2119).
文摘The ripening of climacteric fruits,such as apple,is represented by a series of genetically programmed events orchestrated by the action of several hormones.In this study,we investigated the existence of a hormonal crosstalk between ethylene and auxin during the post-harvest ripening of three internationally known apple cultivars:‘Golden Delicious',‘Granny Smith'and‘Fuji'.The normal climacteric ripening was impaired by the exogenous application of 1-methylcyclopropene(1-MCP)that affected the production of ethylene and the physiological behaviour of specific ethylene-related quality traits,such as fruit texture and the production of volatile organic compounds.The application of 1-MCP induced,moreover,a de-novo accumulation of auxin.The RNA-Seq wide-transcriptome analysis evidenced as the competition at the level of the ethylene receptors induced a cultivar-dependent transcriptional re-programming.The DEGs annotation carried out through the KEGG database identified as most genes were assigned to the plant hormone signaling transduction category,and specifically related to auxin and ethylene.The interplay between these two hormones was further assessed through a candidate gene analysis that highlighted a specific activation of GH3 and ILL genes,encoding key steps in the process of the auxin homeostasis mechanism.Our results showed that a compromised ethylene metabolism at the onset of the climacteric ripening in apple can stimulate,in a cultivar-dependent fashion,an initial de-novo synthesis and de-conjugation of auxin as a tentative to restore a normal ripening progression.