Results 41 to 50 of about 199,466 (296)

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]

, 2020
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C, Baple, E, Baptista, J, Caswell, R, Cunningham, MH, Dean, J, Durigon, R, Durlacher-Betzer, K, Ellard, S, Fernandez Pelayo, U, Grochowski, CM, Gunning, AC, Harel, T, Holt, IJ, Homfray, T, Jones, AWE, Lahiri, N, Lupski, JR, Misra, VK, Muñoz Oreja, M, Parrish, A, Scurr, I, Spinazzola, A, Stals, KL, Strucinska, K, Taylor, RW, Tysoe, C, Wright, CF, Yoon, WH   +28 more
core   +3 more sources

Polymorphic duplicate genes and persistent non-coding sequences reveal heterogeneous patterns of mitochondrial DNA loss in salamanders

BMC Genomics, 2017
Background Mitochondria are the site of the citric acid cycle and oxidative phosphorylation (OXPHOS). In metazoans, the mitochondrial genome is a small, circular molecule averaging 16.5 kb in length.
Rebecca A. Chong, Rachel Lockridge Mueller   +1 more
doaj   +1 more source

Rhodopsin gene evolution in early teleost fishes. [PDF]

PLoS ONE, 2018
Rhodopsin mediates an essential step in image capture and is tightly associated with visual adaptations of aquatic organisms, especially species that live in dim light environments (e.g., the deep sea).
Jhen-Nien Chen, Sarah Samadi, Wei-Jen Chen   +2 more
doaj   +1 more source

Rates and patterns of gene duplication and loss in the human genome [PDF]

Proceedings of the Royal Society B: Biological Sciences, 2005
Gene duplication has certainly played a major role in structuring vertebrate genomes but the extent and nature of the duplication events involved remains controversial. A recent study identified two major episodes of gene duplication: one episode of putative genome duplication ca . 500 Myr ago and a more recent gene–
James A, Cotton, Roderic D M, Page
openaire   +2 more sources

Evolution at the Subgene Level: Domain Rearrangements in the Drosophila Phylogeny [PDF]

, 2011
Supplementary sections 1–13, tables S1–S10, and figures S1–S9 are available at Molecular Biology and Evolution online (http://www.mbe.oxfordjournals.org/).Although the possibility of gene evolution by domain rearrangements has long been appreciated ...
Kellis, Manolis, Rasmussen, Matthew D., Wu, Yi-Chieh   +2 more
core   +2 more sources

Unifying Gene Duplication, Loss, and Coalescence on Phylogenetic Networks [PDF]

, 2019
AbstractStatistical methods were recently introduced for inferring phylogenetic networks under the multispecies network coalescent, thus accounting for both reticulation and incomplete lineage sorting. Two evolutionary processes that are ubiquitous across all three domains of life, but are not accounted for by those methods, are gene duplication and ...
Du, Peng, Ogilvie, Huw A., Nakhleh, Luay
openaire   +1 more source

The highly rearranged mitochondrial genomes of the crabs Maja crispata and Maja squinado (Majidae) and gene order evolution in Brachyura [PDF]

, 2017
We sequenced the mitochondrial genomes of the spider crabs Maja crispata and Maja squinado (Majidae, Brachyura). Both genomes contain the whole set of 37 genes characteristic of Bilaterian genomes, encoded on both \u3b1- and \u3b2-strands.
AD Miller, AE Smith, AH Sahyoun, AT Beckenbach, BQ Minh, C Hahn, C Moritz, DR Wolstenholme, DV Lavrov, E Negrisolo, F Jühling, F Kilpert, FJ Lin, G Shi, G Shi, G Sotelo, G Tan, G Tang, H Ma, H Shen, H Shimodaira, H Sun, I Marcadé, IM Fearnley, J Yang, JD Thompson, JL Boore, JL Boore, JL Boore, JL Boore, JM Sung, JM Sung, JS Ki, K Strimmer, K Tamura, LM Tsang, LS Quang, LT Nguyen, M Babbucci, M Bernt, M Bernt, M Bernt, M Dowton, M Hui, MH Tan, MH Tan, MM Yamauchi, N Lartillot, NT Perna, O Rota-Stabelli, P Cantatore, P Salvato, R Lanfear, R Raimond, RD Segawa, S Grave De, S Montelli, S Saito, SF Altschul, SJ Kim, SL Cameron, TA Rawlings, TM Lowe, X Wang, Y Xing, YK Ji, YQ Yu, Z Yang   +67 more
core   +1 more source

Polynomial-Time Statistical Estimation of Species Trees under Gene Duplication and Loss [PDF]

Journal of Computational Biology, 2019
AbstractPhylogenomics—the estimation of species trees from multilocus datasets—is a common step in many biological studies. However, this estimation is challenged by the fact that genes can evolve under processes, including incomplete lineage sorting (ILS) and gene duplication and loss (GDL), that make their trees different from the species tree.
Legried, Brandon, Molloy, Erin K., Warnow, Tandy, Roch, Sébastien   +3 more
openaire   +2 more sources

Reconciliation feasibility in the presence of gene duplication, loss, and coalescence with multiple individuals per species

BMC Bioinformatics, 2017
Background In phylogenetics, we often seek to reconcile gene trees with species trees within the framework of an evolutionary model. While the most popular models for eukaryotic species allow for only gene duplication and gene loss or only multispecies ...
Jennifer Rogers, Andrew Fishberg, Nora Youngs, Yi-Chieh Wu   +3 more
doaj   +1 more source

A case of recurrent epilepsy-associated rosette-forming glioneuronal tumor with anaplastic transformation in the absence of therapy. [PDF]

, 2019
Rosette-forming glioneuronal tumor (RGNT) most commonly occurs adjacent to the fourth ventricle and therefore rarely presents with epilepsy. Recent reports describe RGNT occurrence in other anatomical locations with considerable morphologic and genetic ...
Corless, Christopher L, Ferris, Sean P, Grafe, Marjorie, Gultekin, Sakir H, Halfpenny, Aaron, Lawce, Helen, Lucas, Lora, Moore, Stephen, Nazemi, Kellie, Olson, Susan, Perry, Arie, Selden, Nathan, Solomon, David A, Woltjer, Randy, Wood, Matthew D   +14 more
core   +1 more source