Discovery of Māori and Polynesian phototransduction pathway founder mutation: what is the gene and what does it mean?

2017 ◽  
Vol 45 (9) ◽  
pp. 854-856
Author(s):  
Thomas L Edwards
Keyword(s):  
Founder Mutation ◽  
Phototransduction Pathway

scholarly journals Molecular Evolution of Phototransduction Pathway Genes in Nocturnal and Diurnal Fireflies (Coleoptera: Lampyridae)

Insects ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 561
Author(s):  
Gavin J. Martin ◽  
Sarah E. Lower ◽  
Anton Suvorov ◽  
Seth M. Bybee
Keyword(s):  
Positive Selection ◽  
Transient Receptor Potential ◽  
Strong Support ◽  
Model Organism ◽  
Receptor Potential ◽  
Guanine Nucleotide Binding Protein ◽  
Weak Support ◽  
Niche Adaptation ◽  
Ideal System ◽  
Phototransduction Pathway

Most organisms are dependent on sensory cues from their environment for survival and reproduction. Fireflies (Coleoptera: Lampyridae) represent an ideal system for studying sensory niche adaptation due to many species relying on bioluminescent communication; as well as a diversity of ecologies. Here; using transcriptomics; we examine the phototransduction pathway in this non-model organism; and provide some of the first evidence for positive selection in the phototransduction pathway beyond opsins in beetles. Evidence for gene duplications within Lampyridae are found in inactivation no afterpotential C and inactivation no afterpotential D. We also find strong support for positive selection in arrestin-2; inactivation no afterpotential D; and transient receptor potential-like; with weak support for positive selection in guanine nucleotide-binding protein G(q) subunit alpha and neither inactivation nor afterpotential C. Taken with other recent work in flies; butterflies; and moths; this represents an exciting new avenue of study as we seek to further understand diversification and constraint on the phototransduction pathway in light of organism ecology.

scholarly journals The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

2009 ◽  
Vol 18 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Erik F Hensen ◽  
Jeroen C Jansen ◽  
Maaike D Siemers ◽  
Jan C Oosterwijk ◽  
Annette HJT Vriends ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Multigenerational Family ◽  
Reduced Penetrance

The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

2007 ◽  
Vol 17 (6) ◽  
pp. 387-392 ◽  
Author(s):  
Francesca Gensini ◽  
Roberta Sestini ◽  
Mauro Piazzini ◽  
Marina Vignoli ◽  
Alessandra Chiarugi ◽  
...  
Keyword(s):  
High Risk ◽  
Founder Mutation ◽  
Central Italy ◽  
High Risk Melanoma ◽  
Risk Melanoma

scholarly journals A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

2015 ◽  
Vol 3 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Samiah A. Al‐Zaidy ◽  
Vinod Malik ◽  
Kelley Kneile ◽  
Xiomara Q. Rosales ◽  
Ana Maria Gomez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Puerto Rican ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Progressive Form

Identification of a SCN5A Founder Mutation Causing Sudden Death, Brugada Syndrome and Conduction Blocks in Southern Italy

Heart Rhythm ◽  
2021 ◽  
Author(s):  
Antonio Curcio ◽  
Alberto Malovini ◽  
Andrea Mazzanti ◽  
Mirella Memmi ◽  
Patrick Gambelli ◽  
...  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Southern Italy ◽  
Founder Mutation

scholarly journals A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing

2009 ◽  
Vol 11 (3) ◽  
pp. 176-181 ◽  
Author(s):  
Liying Zhang ◽  
Tomas Kirchhoff ◽  
Cindy J. Yee ◽  
Kenneth Offit
Keyword(s):  
Mutation Analysis ◽  
Founder Mutation ◽  
Brca1 And Brca2 ◽  
Reliable Test ◽  
Paraffin Tissue

A founder mutation in the ETHE1 gene and ethylmalonic encephalopathy in the Omani population

2021 ◽  
pp. 51-55
Author(s):  
Aaisha Balushi ◽  
Nooh Bakri ◽  
Nadia Hashmi
Keyword(s):  
Founder Mutation ◽  
Ethylmalonic Encephalopathy
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