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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

    Whey acidic protein (WAP) is a major protein identified in the milk of several mammalian species with cysteine-rich domains known as four-disulfide cores (4-DSC). The organization of the eutherian WAP genes is...

    Authors: Alma Ryskaliyeva, Céline Henry, Guy Miranda, Bernard Faye, Gaukhar Konuspayeva and Patrice Martin

    Citation: BMC Genetics 2019 20:14

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  2. Content type: Research article

    Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. It is the first recorded disorder of the autosoma...

    Authors: Lu Shen, Gang Ma, Ye Shi, Yunfeng Ruan, Xuhan Yang, Xi Wu, Yuyu Xiong, Chunling Wan, Chao Yang, Lei Cai, Likuan Xiong, Xueli Gong, Lin He and Shengying Qin

    Citation: BMC Genetics 2019 20:10

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  3. Content type: Research article

    Selenium (Se), an essential micronutrient in both animals and humans, has various biological functions, and its deficiency can lead to various diseases. The most common method for increasing Se uptake is the c...

    Authors: Lijun Wu, Tao Liu, Yongsheng Xu, Wenjie Chen, Baolong Liu, Lianquan Zhang, Dengcai Liu, Huaigang Zhang and Bo Zhang

    Citation: BMC Genetics 2019 20:9

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  4. Content type: Research article

    The serotonin neurotransmitter (5-HT) and its receptors have important roles in neuropsychiatric disorders such as schizophrenia. The aim of this study was to investigate the functional sequences of the 5′ reg...

    Authors: Xue Wu, Feng-ling Xu, Mei Ding, Jing-jing Zhang, Jun Yao and Bao-jie Wang

    Citation: BMC Genetics 2018 19:115

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  5. Content type: Research article

    Fungal fruiting bodies are complex three-dimensional structures that are formed to protect and disperse the sexual spores. Their morphogenesis requires the concerted action of numerous genes; however, at the m...

    Authors: David Immanuel Schumacher, Ramona Lütkenhaus, Florian Altegoer, Ines Teichert, Ulrich Kück and Minou Nowrousian

    Citation: BMC Genetics 2018 19:112

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  6. Content type: Research article

    The expression of genes involved in regulating adipogenesis and lipid metabolism may affect economically important fatness traits in pigs. Allele-specific expression (ASE) reflects imbalance between allelic tr...

    Authors: Monika Stachowiak, Izabela Szczerbal and Krzysztof Flisikowski

    Citation: BMC Genetics 2018 19:107

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  7. Content type: Research article

    Bud mutation is a vital method of citrus. ‘Wuzi Ougan’ (mutant type, MT) as a bud variant of ‘Ougan’ (wild type, WT) was first found in 1996 and has become popular because of its male sterility and seedless ch...

    Authors: Chi Zhang, Dihu Yu, Fuzhi Ke, Mimi Zhu, Jianguo Xu and Min Zhang

    Citation: BMC Genetics 2018 19:106

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  8. Content type: Research article

    Previous studies have identified genetic variants associated with bronchopulmonary dysplasia (BPD) in extremely preterm infants. However, findings with genome-wide significance have been rare, and not replicat...

    Authors: Aaron Hamvas, Rui Feng, Yingtao Bi, Fan Wang, Soumyaroop Bhattacharya, Jared Mereness, Madhurima Kaushal, C Michael Cotten, Philip L Ballard and Thomas J Mariani

    Citation: BMC Genetics 2018 19:94

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  9. Content type: Research article

    Long non-coding RNAs (lncRNAs) have crucial roles in various biological regulatory processes. However, the study of lncRNAs is limited in woody plants. Catalpa bungei is a valuable ornamental tree with a long cul...

    Authors: Zhi Wang, Tianqing Zhu, Wenjun Ma, Nan Wang, Guanzheng Qu, Shougong Zhang and Junhui Wang

    Citation: BMC Genetics 2018 19:86

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  10. Content type: Research article

    One of the most popular ornamental plants worldwide, roses (Rosa sp.), are very susceptible to Botrytis gray mold disease. The necrotrophic infection of rose petals by B. cinerea causes the collapse and death of ...

    Authors: Xintong Liu, Xiaoqian Cao, Shaochuan Shi, Na Zhao, Dandan Li, Peihong Fang, Xi Chen, Weicong Qi and Zhao Zhang

    Citation: BMC Genetics 2018 19:62

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  11. Content type: Research article

    NOD-like receptors (NLRs) are a family of cytoplasmic pattern recognition receptors (PRRs), of which NOD1 and NOD2, are the main representative members. Many investigations have focused on the role of NOD1 and NO...

    Authors: Tiantian Gu, Lu Lu, Jingwen Wang, Lili Tian, Wenzhi Wei, Xinsheng Wu, Qi Xu and Guohong Chen

    Citation: BMC Genetics 2018 19:61

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  12. Content type: Research article

    Aging leads to decreased skeletal muscle function in mammals and is associated with a progressive loss of muscle mass, quality and strength. Age-related muscle loss (sarcopenia) is an important health problem ...

    Authors: I-Hsuan Lin, Junn-Liang Chang, Kate Hua, Wan-Chen Huang, Ming-Ta Hsu and Yi-Fan Chen

    Citation: BMC Genetics 2018 19:55

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  13. Content type: Research article

    WRKY transcription factors (TFs) participate in various physiological processes of plants. Although WRKY genes have been well studied in model plants, knowledge of the functional roles of these genes is still ...

    Authors: Lijiao Gu, Hengling Wei, Hantao Wang, Junji Su and Shuxun Yu

    Citation: BMC Genetics 2018 19:48

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  14. Content type: Research article

    This study aimed to explore the molecular mechanism of estrogen-mediated neuroprotection in the relief of cerebral ischemic injury. The gene expression profiles were downloaded from Gene Expression Omnibus dat...

    Authors: Jiaxuan He, Ya Gao, Gang Wu, Xiaoming Lei, Yong Zhang, Weikang Pan and Hui Yu

    Citation: BMC Genetics 2018 19:46

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  15. Content type: Research article

    Glutathione S-transferases (GSTs) have been reported to regulate the plant tolerance to environmental stresses. Many plant GSTs exhibited the roles on promoting tolerance to drought stress, oxidative stress an...

    Authors: Wenbin Liao, Shuxia Li, Cheng Lu and Ming Peng

    Citation: BMC Genetics 2018 19:45

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  18. Content type: Research article

    The swimming crab Portunus trituberculatus is one of the most commonly farmed crustaceans in China. As one of the most widely known and high-value edible crabs, it crab supports large crab fishery and aquaculture...

    Authors: Zhengfei Wang, Linxia Sun, Weibing Guan, Chunlin Zhou, Boping Tang, Yongxu Cheng, Jintian Huang and Fujun Xuan

    Citation: BMC Genetics 2018 19:3

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  19. Content type: Research article

    Drought is the most disastrous abiotic stress that severely affects agricultural productivity worldwide. Understanding the biological basis of drought-regulated traits, requires identification and an in-depth ...

    Authors: Adugna Abdi Woldesemayat, Peter Van Heusden, Bongani K. Ndimba and Alan Christoffels

    Citation: BMC Genetics 2017 18:119

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  20. Content type: Research article

    Researchers have been exploring the molecular mechanisms underlying the control of periodontal ligament stem cell (PDLSC) osteogenic differentiation. Recently, long noncoding RNAs (lncRNAs) and circular RNAs (...

    Authors: Xiuge Gu, Mengying Li, Ye Jin, Dongxu Liu and Fulan Wei

    Citation: BMC Genetics 2017 18:100

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  21. Content type: Research article

    Allotetraploid F1 hybrids (4nF1) (AABB, 4n = 148) were generated from the distant hybridization of Carassius auratus red var. (RCC) (AA, 2n = 100) (♀) × Megalobrama amblycephala (BSB) (BB, 2n = 48) (♂). It has be...

    Authors: Y. D. Wang, Q. B. Qin, R. Yang, W. Z. Sun, Q. W. Liu, Y. Y. Huo, X. Huang, M. Tao, C. Zhang, T. Li and S. J. Liu

    Citation: BMC Genetics 2017 18:86

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  22. Content type: Research article

    Understanding the molecular basis of insecticide resistance is key to improve the surveillance and monitoring of malaria vector populations under control. In the major malaria vector Anopheles funestus, little is...

    Authors: Helen Irving and Charles S. Wondji

    Citation: BMC Genetics 2017 18:76

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  23. Content type: Research article

    Misidentification of the chicken leptin gene has hampered research of leptin signaling in this species for almost two decades. Recently, the genuine leptin gene with a GC-rich (~70%) repetitive-sequence content w...

    Authors: Eyal Seroussi, Frédérique Pitel, Sophie Leroux, Mireille Morisson, Susanne Bornelöv, Shoval Miyara, Sara Yosefi, Larry A. Cogburn, David W. Burt, Leif Anderson and Miriam Friedman-Einat

    Citation: BMC Genetics 2017 18:77

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    The Correction to this article has been published in BMC Genetics 2017 18:113

  24. Content type: Research article

    Persons living with HIV/AIDS (PLWHA) are at an increased risk of suicide. Increased suicidal risk is a predictor of future attempted and completed suicides and has been associated with poor quality of life and...

    Authors: Allan Kalungi, Soraya Seedat, Sian M. J. Hemmings, Lize van der Merwe, Moses L. Joloba, Ann Nanteza, Noeline Nakassujja, Harriet Birabwa, Jennifer Serwanga, Pontiano Kaleebu and Eugene Kinyanda

    Citation: BMC Genetics 2017 18:71

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  25. Content type: Research article

    Neuregulin 3 (NRG3) plays a key role in central nervous system development and is a strong candidate for human mental disorders. Thus, genetic variation in NRG3 may have some impact on a variety of phenotypes in ...

    Authors: Hideaki Abe, Daiki Aoya, Hiro-aki Takeuchi and Miho Inoue-Murayama

    Citation: BMC Genetics 2017 18:69

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  26. Content type: Research article

    The determinants of malaria parasite virulence is not entirely known, but the outcome of malaria infection (asymptomatic or symptomatic) has been associated with carriage of distinct parasite genotypes. Allele...

    Authors: Akua Kyerewaa Botwe, Kwaku Poku Asante, George Adjei, Samuel Assafuah, David Dosoo and Seth Owusu-Agyei

    Citation: BMC Genetics 2017 18:67

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  27. Content type: Research article

    Sucrose non-fermenting-1-related protein kinase 2 (SnRK2) is a plant-specific serine/threonine kinase family involved in the abscisic acid (ABA) signaling pathway and responds to osmotic stress. A genome-wide ...

    Authors: Zhao Liu, Xiaoyang Ge, Zuoren Yang, Chaojun Zhang, Ge Zhao, Eryong Chen, Ji Liu, Xueyan Zhang and Fuguang Li

    Citation: BMC Genetics 2017 18:54

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  28. Content type: Research article

    Mesencephalic Astrocyte-derived Neurotrophic Factor (MANF) and Cerebral Dopamine Neurotrophic Factor (CDNF) form an evolutionarily conserved family of neurotrophic factors. Orthologues for MANF/CDNF are the on...

    Authors: Riitta Lindström, Päivi Lindholm, Mari Palgi, Mart Saarma and Tapio I. Heino

    Citation: BMC Genetics 2017 18:52

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  29. Content type: Research article

    Our previous RNA-sequencing study revealed that the ATF3 and CDKN1A genes were remarkably differentially expressed between the mammary glands of lactating Holstein cows with extremely high and low milk protein an...

    Authors: Bo Han, Weijun Liang, Lin Liu, Yanhua Li and Dongxiao Sun

    Citation: BMC Genetics 2017 18:47

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  30. Content type: Research article

    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...

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

    Citation: BMC Genetics 2017 18:41

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  32. Content type: Research article

    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...

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

    Citation: BMC Genetics 2017 18:43

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  33. Content type: Research article

    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

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

    Citation: BMC Genetics 2017 18:40

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  34. Content type: Research article

    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...

    Authors: 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

    Citation: BMC Genetics 2017 18:39

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  35. Content type: Research article

    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...

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

    Citation: BMC Genetics 2017 18:36

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  36. Content type: Research article

    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...

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

    Citation: BMC Genetics 2017 18:33

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  37. Content type: Research article

    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...

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

    Citation: BMC Genetics 2017 18:31

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  38. Content type: Research article

    Avian pathogenic E. coli (APEC) can lead to a loss in millions of dollars in poultry annually because of mortality and produce contamination. Studies have verified that many immune-related genes undergo changes i...

    Authors: Hongyan Sun

    Citation: BMC Genetics 2017 18:21

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  40. Content type: Research article

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

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

    Citation: BMC Genetics 2017 18:16

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  41. Content type: Methodology article

    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...

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

    Citation: BMC Genetics 2017 18:10

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  42. Content type: Research article

    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 ...

    Authors: 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

    Citation: BMC Genetics 2017 18:3

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

  43. Content type: Research article

    South African (SA) Black women have a high prevalence of preeclampsia and HIV, both conditions associated with increased inflammation. miR-146a is an inflammatory-associated miR and a common single nucleotide ...

    Authors: Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay and Anil Amichund Chuturgoon

    Citation: BMC Genetics 2017 18:5

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  44. Content type: Research article

    Epidermal growth factor receptor (Egfr) has been the target of several drugs for cancers. The potential gender differences in genes in the Egfr axis have been suggested in humans and in animal models. Female and ...

    Authors: Fengxia Liu, Yan Jiao, Yun Jiao, Franklin Garcia-Godoy, Weikuan Gu and Qingyi Liu

    Citation: BMC Genetics 2016 17:146

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  45. Content type: Research article

    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...

    Authors: Patrick H. Maxwell

    Citation: BMC Genetics 2016 17:140

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  47. Content type: Research article

    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...

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

    Citation: BMC Genetics 2016 17:126

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  48. Content type: Research article

    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...

    Authors: 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

    Citation: BMC Genetics 2016 17:123

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  49. Content type: Research article

    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-...

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

    Citation: BMC Genetics 2016 17:110

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  50. Content type: Research article

    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...

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

    Citation: BMC Genetics 2016 17:109

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