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

    FecX Bar a Novel BMP15 mutation responsible for prolificacy and female sterility in Tunisian Barbarine Sheep

    Naturally occurring mutations in growth and differentiation factor 9 (GDF9) or bone morphogenetic protein 15 (BMP15) genes are associated with increased ovulation rate (OR) and litter size (LS) but also sterility...

    Narjess Lassoued, Zohra Benkhlil, Florent Woloszyn, Ahmed Rejeb, Mohamed Aouina, Mourad Rekik, Stephane Fabre and Sonia Bedhiaf-Romdhani

    BMC Genetics 2017 18:43

    Published on: 15 May 2017

  2. Research article

    Sucrose non-ferment 1 related protein kinase 2 (SnRK2) genes could mediate the stress responses in potato (Solanum tuberosum L.)

    The SnRKs (sucrose non-fermenting 1 related protein kinase) are a gene family coding for Ser/Thr protein kinases and play important roles in linking the tolerance and metabolic responses of plants to abiotic s...

    Jiangping Bai, Juan Mao, Hongyu Yang, Awais Khan, Aqi Fan, Siyan Liu, Junlian Zhang, Di Wang, Huijuan Gao and Jinlin Zhang

    BMC Genetics 2017 18:41

    Published on: 15 May 2017

  3. Research article

    High-content behavioral profiling reveals neuronal genetic network modulating Drosophila larval locomotor program

    Two key questions in understanding the genetic control of behaviors are: what genes are involved and how these genes interact. To answer these questions at a systems level, we conducted high-content profiling of

    Boanerges Aleman-Meza, Mario Loeza-Cabrera, Omar Peña-Ramos, Michael Stern and Weiwei Zhong

    BMC Genetics 2017 18:40

    Published on: 12 May 2017

  4. Research article

    A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)

    Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), whic...

    Felipe Tadeu Galante Rocha de Vasconcelos, Einat Hauzman, Leonardo Dutra Henriques, Paulo Roney Kilpp Goulart, Olavo de Faria Galvão, Ronaldo Yuiti Sano, Givago da Silva Souza, Jessica Lynch Alfaro, Luis Carlos de Lima Silveira, Dora Fix Ventura and Daniela Maria Oliveira Bonci

    BMC Genetics 2017 18:39

    Published on: 5 May 2017

  5. Research article

    Quantitative trait locus analysis of heterosis for plant height and ear height in an elite maize hybrid zhengdan 958 by design III

    Plant height (PH) and ear height (EH) are two important agronomic traits in maize selection breeding. F1 hybrid exhibit significant heterosis for PH and EH as compared to their parental inbred lines. To understan...

    Hongjian Li, Qingsong Yang, Nannan Fan, Ming Zhang, Huijie Zhai, Zhongfu Ni and Yirong Zhang

    BMC Genetics 2017 18:36

    Published on: 17 April 2017

  6. Research article

    Genome-wide identification and expression analysis of ClLAX, ClPIN and ClABCB genes families in Citrullus lanatus under various abiotic stresses and grafting

    Auxin plays an important role in regulating plant growth and development as well as in the response of plants to abiotic stresses. Auxin is transported by three kinds of major protein families, including the A...

    Chenliang Yu, Wenqi Dong, Yihua Zhan, Zong-an Huang, Zhimiao Li, Il Seop Kim and Chenghao Zhang

    BMC Genetics 2017 18:33

    Published on: 7 April 2017

  7. Research article

    Transcriptome profiling of Arabian horse blood during training regimens

    Arabian horses are believed to be one of the oldest and most influential horse breeds in the world. Blood is the main tissue involved in maintaining body homeostasis, and it is considered a marker of the proce...

    Katarzyna Ropka-Molik, Monika Stefaniuk-Szmukier, Kacper Żukowski, Katarzyna Piórkowska, Artur Gurgul and Monika Bugno-Poniewierska

    BMC Genetics 2017 18:31

    Published on: 5 April 2017

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

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