Theme Issue on Genetics and Genomics of Neuroscience and Clinical Neurology

2007 ◽  
Vol 64 (9) ◽  
pp. 1235
2019 ◽  
Vol 374 (1777) ◽  
pp. 20180236 ◽  
Author(s):  
Kristin M. Lee ◽  
Graham Coop

Convergent adaptation is the independent evolution of similar traits conferring a fitness advantage in two or more lineages. Cases of convergent adaptation inform our ideas about the ecological and molecular basis of adaptation. In judging the degree to which putative cases of convergent adaptation provide an independent replication of the process of adaptation, it is necessary to establish the degree to which the evolutionary change is unexpected under null models and to show that selection has repeatedly, independently driven these changes. Here, we discuss the issues that arise from these questions particularly for closely related populations, where gene flow and standing variation add additional layers of complexity. We outline a conceptual framework to guide intuition as to the extent to which evolutionary change represents the independent gain of information owing to selection and show that this is a measure of how surprised we should be by convergence. Additionally, we summarize the ways population and quantitative genetics and genomics may help us address questions related to convergent adaptation, as well as open new questions and avenues of research. This article is part of the theme issue ‘Convergent evolution in the genomics era: new insights and directions’.


1992 ◽  
Vol 37 (7) ◽  
pp. 689-690
Author(s):  
Thomas E. Beniak
Keyword(s):  

1940 ◽  
Vol 10 (4) ◽  
pp. 889-889
Author(s):  
Lawson G. Lowrey
Keyword(s):  

Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.


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