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BMC Genetics

Functional genetics

Section edited by Federico Canzian

This section incorporates all aspects of the functional analysis of genes and genomes including but not limited to: sequence analysis and genotyping approaches to finding functional variation in genes and gene families, experimental studies of gene function, transcriptional regulation and gene expression.

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  1. Content type: Research article

    Trehalose (a-D-glucopyranosyl a-D-glucopyranoside) is a nonreducing disaccharide and is widely distributed in bacteria, fungi, algae, plants and invertebrates. In the study, the identification of trehalose-6-p...

    Authors: Min Mu, Xu-Ke Lu, Jun-Juan Wang, De-Long Wang, Zu-Jun Yin, Shuai Wang, Wei-Li Fan and Wu-Wei Ye

    Citation: BMC Genetics 2016 17:54

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    The Erratum to this article has been published in BMC Genetics 2016 17:101

  2. Content type: Research article

    Dopamine β-hydroxylase (DBH) is a critical enzyme in the biosynthesis of catecholamines. This enzyme’s role in neuroendocrine regulation is well known, but there are some indications that it may also modulate ...

    Authors: Qi Xu, Yadong Song, Ran Liu, Yang Chen, Yang Zhang, Yang Li, Wenming Zhao, Guobin Chang and Guohong Chen

    Citation: BMC Genetics 2016 17:48

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  3. Content type: Research article

    The beak deformity (crossed beaks) was found in some indigenous chickens of China, such as Beijing-You (BJY), Qingyuan Partridge, and Huxu Chickens. Birds with deformed beaks have reduced feed intake and drink...

    Authors: Hao Bai, Yanyan Sun, Jing Zhu, Nian Liu, Dongli Li, Fuguang Xue, Yunlei Li and Jilan Chen

    Citation: BMC Genetics 2016 17:44

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  4. Content type: Research article

    This study was performed to identify the non- synonymous polymorphisms in the myosin heavy chain 1 gene (MYH1) association with skeletal muscle development in economically important Jeju Native Pig (JNP) and Berk...

    Authors: Mrinmoy Ghosh, Simrinder Singh Sodhi, Neelesh Sharma, Raj Kumar Mongre, Nameun Kim, Amit Kumar Singh, Sung Jin Lee, Dae Cheol Kim, Sung Woo Kim, Hak Kyo Lee, Ki-Duk Song and Dong Kee Jeong

    Citation: BMC Genetics 2016 17:35

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  5. Content type: Research article

    The transformer (tra) is a sex determining switch in different orders of insects, including Diptera, as in the family Tephritidae. The lifelong autoregulatory loop of tra female-specific splicing can be reset by ...

    Authors: Kamoltip Laohakieat, Nidchaya Aketarawong, Siriwan Isasawin, Siripong Thitamadee and Sujinda Thanaphum

    Citation: BMC Genetics 2016 17:34

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  6. Content type: Research article

    Despite the emergence of stereotactic body radiotherapy (SBRT) for treatment of medically inoperable early-stage non-small-cell lung cancer patients, the molecular effects of focal exposure of limited lung vol...

    Authors: Bu-Yeo Kim, Hee Jin, Yoon-Jin Lee, Ga-Young Kang, Jaeho Cho and Yun-Sil Lee

    Citation: BMC Genetics 2016 17:29

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  7. Content type: Research article

    Copy number variation (CNV) is an important source of genetic variability associated with phenotypic variation and disease susceptibility. Comprehensive genome-wide CNV maps provide valuable information for ge...

    Authors: Shinji Sasaki, Toshio Watanabe, Shota Nishimura and Yoshikazu Sugimoto

    Citation: BMC Genetics 2016 17:26

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  8. Content type: Research article

    Metagenomics allows us to acquire the potential resources from both cultivatable and uncultivable microorganisms in the environment. Here, shotgun metagenome sequencing was used to investigate microbial commun...

    Authors: Xian Zhang, Jiaojiao Niu, Yili Liang, Xueduan Liu and Huaqun Yin

    Citation: BMC Genetics 2016 17:21

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  9. Content type: Research article

    Microsatellites or simple sequence repeats (SSRs) are DNA sequences consisting of 1–6 bp tandem repeat motifs present in the genome. SSRs are considered to be one of the most powerful tools in genetic studies....

    Authors: Sonali Sachin Ranade, Yao-Cheng Lin, Yves Van de Peer and María Rosario García-Gil

    Citation: BMC Genetics 2015 16:149

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  10. Content type: Research article

    Etl4lacZ (Enhancer trap locus 4) and SktGt (Sickle tail) are lacZ reporter gene integrations into the same locus on mouse chromosome 2 targeting a gene that is expressed in the notochord of early embryos and in m...

    Authors: Katrin Serth, Anja Beckers, Karin Schuster-Gossler, Maria N. Pavlova, Julia Müller, Mariel C. Paul, Richard Reinhardt and Achim Gossler

    Citation: BMC Genetics 2015 16:143

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  11. Content type: Research article

    Adaption to cold temperatures, especially those below freezing, is essential for animal survival in cold environments. Freezing is also used for many medical, scientific, and industrial purposes. Natural freez...

    Authors: Jian-Ping Hu, Xiao-Ying Xu, Li-Ying Huang, Li-shun Wang and Ning-Yuan Fang

    Citation: BMC Genetics 2015 16:139

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  12. Content type: Research article

    Fish are remarkably diverse in repertoires of visual opsins by gene duplications. Differentiation of their spatiotemporal expression patterns and absorption spectra enables fine-tuning of feature detection in ...

    Authors: Taro Tsujimura, Ryoko Masuda, Ryuichi Ashino and Shoji Kawamura

    Citation: BMC Genetics 2015 16:130

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  13. Content type: Research article

    Adipose tissue is recognized as a highly active metabolic and endocrine organ. The hormones secreted by this tissue play an important role in many biochemical processes. It is known that dysfunction of adipocy...

    Authors: Joanna Nowacka-Woszuk, Ewa Pruszynska-Oszmalek, Maciej Szydlowski, Slawomir Sadkowski and Izabela Szczerbal

    Citation: BMC Genetics 2015 16:113

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  14. Content type: Research article

    Sea level sojourners, on ascent to high altitude, undergo acclimatization through integrated physiological processes for defending the body against oxygen deprivation while the high altitude natives (resident ...

    Authors: Arvind Tomar, Seema Malhotra and Soma Sarkar

    Citation: BMC Genetics 2015 16:112

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  15. Content type: Research article

    Accumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymor...

    Authors: Javier Gervas-Arruga, Jorge J. Cebolla, Pilar Irun, Javier Perez-Lopez, Luis Plaza, Jose C. Roche, Jose L. Capablo, Jose C. Rodriguez-Rey, Miguel Pocovi and Pilar Giraldo

    Citation: BMC Genetics 2015 16:109

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  16. Content type: Research article

    Acid soil is a serious limitation to crop production all over the world. Toxic aluminium (Al) cations in acid soil inhibit root growth and reduce yield. Although a gene tolerant to acid soil has been identifie...

    Authors: Miao Bian, Xiaoli Jin, Sue Broughton, Xiao-Qi Zhang, Gaofeng Zhou, Meixue Zhou, Guoping Zhang, Dongfa Sun and Chengdao Li

    Citation: BMC Genetics 2015 16:92

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  17. Content type: Research article

    In a deep sequencing analysis of small RNAs prepared from a living fossil, the tadpole shrimp Triops cancriformis, a 32-nt small RNA was specifically detected in the adult stage. A nucleotide sequence comparison ...

    Authors: Yuka Hirose, Kahori T. Ikeda, Emiko Noro, Kiriko Hiraoka, Masaru Tomita and Akio Kanai

    Citation: BMC Genetics 2015 16:83

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  18. Content type: Research article

    Low weight at birth is associated with obesity in later life. One hypothesis to explain such an association is that genetic variants that increase the risk of obesity also reduce fetal weight. Recently, obesit...

    Authors: Olivier S Descamps, Eric Tarantino and Pierre-Francois Guilmot

    Citation: BMC Genetics 2014 15:145

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  19. Content type: Research article

    Sheep are valuable resources for the animal fibre industry. Therefore, identifying genes which regulate wool growth would offer strategies for improving the quality of fine wool. In this study, we employed Agi...

    Authors: Nan Liu, Hegang Li, Kaidong Liu, Juanjuan Yu, Ran Bu, Ming Cheng, Wei De, Jifeng Liu, Guangling He and Jinshan Zhao

    Citation: BMC Genetics 2014 15:144

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  20. Content type: Research article

    The factors determining sex are diverse in vertebrates and especially so in teleost fishes. Only a handful of master sex-determining genes have been identified, however great efforts have been undertaken to ch...

    Authors: Corina Heule, Carolin Göppert, Walter Salzburger and Astrid Böhne

    Citation: BMC Genetics 2014 15:140

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