Drosophila subobscura is a species with a rich chromosomal polymorphism which is adaptive to different climatic conditions. Five samples of the Font Groga population (Barcelona, Spain) were sampled in autumn during 5 consecutive years (2011-2015) to obtain their inversion chromosomal polymorphism, and climatic data of several meteorological variables were also collected. The aim was to analyze the adaptive potential of inversions with regard to climatic variables, being the most relevant: mean temperature (T), maximum temperature (T), minimum temperature (T), humidity (Hm) and rainfall (Rf). As expected, no significant variation in inversion frequencies were detected over this short period of time. However, from a climatic point of view it was possible to differentiate 'warm' and 'dry' from 'cold' and 'humid' samples. The joint study of maximum (T) and minimum (T) temperatures was a key element to understand the effect on adaptation of many inversions. It was also observed that temperature had to be considered in conjunction with humidity and rainfall. All these factors would condition the biota of D. subobscura habitat, and chromosomal inversions could provide an adaptive response to it.
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly. The mutation (c.1428 + 1 G > A) promotes the skipping of exon 16, a frameshift and a premature STOP codon (p.Ala450GLyfs*13), as assessed by a minigene strategy. The patient reported here shares speech difficulties, intellectual disability and autistic features with other FOXP1 syndrome patients, and thus the diagnosis for this patient should be changed. Finally, since trigonocephaly has not been previously reported in FOXP1 syndrome, it remains to be proved whether it may be associated with the FOXP1 mutation.
Drosophila suzukii is native to East and Southeast Asia and spread very fast around the world being considered an invasive pest species. Many demographic, population genetics and genomic studies have been recently developed, but so far no analysis has been carried out regarding the presence of chromosomal inversions in D. suzukii natural populations. In this research, we studied polytene chromosomes of flies collected from the Font Groga (Barcelona) population. The chromosomes and many of their segments were characterized for their similarity with those from D. melanogaster. This is the report of one paracentric inversion (in heterozygous condition) in the right arm of the third chromosome (3R). As far as we know, it is the first time that an inversion has been observed in a D. suzukii natural population. Finally, the evolutionary significance of the finding of inversions in this species is discussed. Keywords. invasive species; polytene chromosomes; chromosomal inversions; adaptation; D. suzukii.Carla Esteve and Clàudia Lagares have contributed equally to this work.
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