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. Research article

    Identification of effector-like proteins in Trichoderma spp. and role of a hydrophobin in the plant-fungus interaction and mycoparasitism

    Trichoderma spp. can establish beneficial interactions with plants by promoting plant growth and defense systems, as well as, antagonizing fungal phytopathogens in mycoparasitic intera...

    Paulina Guzmán-Guzmán, Mario Iván Alemán-Duarte, Luis Delaye, Alfredo Herrera-Estrella and Vianey Olmedo-Monfil

    BMC Genetics 2017 18:16

    Published on: 15 February 2017

  2. Methodology article

    Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity

    Color perception is important for fish to survive and reproduce in nature. Visual pigments in the retinal photoreceptor cells are responsible for receiving light stimuli, but the function of the pigments in vi...

    Noriko Homma, Yumi Harada, Tamaki Uchikawa, Yasuhiro Kamei and Shoji Fukamachi

    BMC Genetics 2017 18:10

    Published on: 6 February 2017

  3. Research article

    Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

    Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These ...

    Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jithesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane and André Mégarbané

    BMC Genetics 2017 18:3

    Published on: 19 January 2017

    The Erratum to this article has been published in BMC Genetics 2017 18:9

  4. Research article

    Growth conditions that increase or decrease lifespan in Saccharomyces cerevisiae lead to corresponding decreases or increases in rates of interstitial deletions and non-reciprocal translocations

    Accumulation of DNA damage, mutations, and chromosomal abnormalities is associated with aging in many organisms. How directly various forms of genomic instability contribute to lifespan in different aging cont...

    Patrick H. Maxwell

    BMC Genetics 2016 17:140

    Published on: 21 October 2016

  5. Research article

    Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis

    Breast cancer is the most common cause of cancer death among women. Several studies have investigated the relationship between the C3435T polymorphism of ABCB1 gene and risk of breast cancer; but the results a...

    Amal Tazzite, Yaya Kassogue, Bréhima Diakité, Hassan Jouhadi, Hind Dehbi, Abdellatif Benider and Sellama Nadifi

    BMC Genetics 2016 17:126

    Published on: 1 September 2016

  6. Research article

    Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

    Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variab...

    Joe Fenn, Mike Boursnell, Rebekkah J. Hitti, Christopher A. Jenkins, Rebecca L. Terry, Simon L. Priestnall, Patrick J. Kenny, Cathryn S. Mellersh and Oliver P. Forman

    BMC Genetics 2016 17:123

    Published on: 26 August 2016

  7. Research article

    Genetic effects of FASN, PPARGC1A, ABCG2 and IGF1 revealing the association with milk fatty acids in a Chinese Holstein cattle population based on a post genome-wide association study

    A previous genome-wide association study deduced that one (ARS-BFGL-NGS-39328), two (Hapmap26001-BTC-038813 and Hapmap31284-BTC-039204), two (Hapmap26001-BTC-038813 and BTB-00246150), and one (Hapmap50366-BTA-...

    Cong Li, Dongxiao Sun, Shengli Zhang, Shaohua Yang, M. A. Alim, Qin Zhang, Yanhua Li and Lin Liu

    BMC Genetics 2016 17:110

    Published on: 28 July 2016

  8. Research article

    Association of single nucleotide polymorphisms in Pre-miR-27a, Pre-miR-196a2, Pre-miR-423, miR-608 and Pre-miR-618 with breast cancer susceptibility in a South American population

    MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-stranded RNAs capable of regulating gene expression by suppressing translation or degrading mRNAs. Single nucleotide polymorphisms (SNP) c...

    Sebastián Morales, Felipe Gulppi, Patricio Gonzalez-Hormazabal, Ricardo Fernandez-Ramires, Teresa Bravo, José Miguel Reyes, Fernando Gomez, Enrique Waugh and Lilian Jara

    BMC Genetics 2016 17:109

    Published on: 15 July 2016

  9. Research article

    Small GTP-binding protein PdRanBP regulates vascular tissue development in poplar

    Previous research has demonstrated that ectopic expression of Ran-binding protein (RanBP) in Arabidopsis results in more axillary buds and reduced apical dominance compared to WT plants. However, the function of

    Shaofeng Li, Qinjun Huang, Bingyu Zhang, Jianhui Zhang, Xue Liu, Mengzhu Lu, Zanmin Hu, Changjun Ding and Xiaohua Su

    BMC Genetics 2016 17:96

    Published on: 29 June 2016

  10. Research article

    Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs

    Canine atopic dermatitis (CAD) is a chronic inflammatory skin disease triggered by allergic reactions involving IgE antibodies directed towards environmental allergens. We previously identified a ~1.5 Mb locus...

    Katarina Tengvall, Sergey Kozyrev, Marcin Kierczak, Kerstin Bergvall, Fabiana H. G. Farias, Brita Ardesjö-Lundgren, Mia Olsson, Eva Murén, Ragnvi Hagman, Tosso Leeb, Gerli Pielberg, Åke Hedhammar, Göran Andersson and Kerstin Lindblad-Toh

    BMC Genetics 2016 17:97

    Published on: 29 June 2016

  11. Research article

    Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

    In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by C...

    Ariana Kariminejad, Navid Almadani, Atefeh Khoshaeen, Bjorn Olsson, Ali-Reza Moslemi and Homa Tajsharghi

    BMC Genetics 2016 17:71

    Published on: 31 May 2016

  12. Research article

    Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood

    Multiple sclerosis is a chronic inflammatory, demyelinating disease of the central nervous system. Recent genome-wide studies have revealed more than 110 single nucleotide polymorphisms as associated with susc...

    Pankaj K. Keshari, Hanne F. Harbo, Kjell-Morten Myhr, Jan H. Aarseth, Steffan D. Bos and Tone Berge

    BMC Genetics 2016 17:59

    Published on: 14 April 2016

  13. Research article

    Combined small RNA and degradome sequencing to identify miRNAs and their targets in response to drought in foxtail millet

    Foxtail millet (Setaria italica) is a diploid C4 panicoid species. Because of its prominent drought resistance, small genome size, self-pollination, and short life cycle, foxtail millet has become an ideal model ...

    Yongqiang Wang, Lin Li, Sha Tang, Jianguang Liu, Hanshuang Zhang, Hui Zhi, Guanqing Jia and Xianmin Diao

    BMC Genetics 2016 17:57

    Published on: 12 April 2016

  14. Research article

    Genome-wide Identification and analysis of the stress-resistance function of the TPS (Trehalose-6-Phosphate Synthase) gene family in cotton

    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...

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

    BMC Genetics 2016 17:54

    Published on: 18 March 2016

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

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