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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

    In order to assess genetic diversity of a set of 41 Caricaceae accessions, this study used 34 primer pairs designed from the conserved domains of bacterial leaf blight resistance genes from rice, in a PCR base...

    Authors: Samik Sengupta, Basabdatta Das, Pinaki Acharyya, Manoj Prasad and Tapas Kumar Ghose

    Citation: BMC Genetics 2014 15:137

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  2. Content type: Research article

    Human xylosyltransferase-I (XT-I) catalyzes the rate-limiting step in proteoglycan glycosylation. An increase in XYLT1 mRNA expression and serum XT activity is associated with diseases characterized by abnormal e...

    Authors: Isabel Faust, Kai Oliver Böker, Christoph Lichtenberg, Joachim Kuhn, Cornelius Knabbe and Doris Hendig

    Citation: BMC Genetics 2014 15:129

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  3. Content type: Research article

    Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities. Blind sterile (bs) mice ca...

    Authors: Anna Kyunglim Park, Ryan P Liegel, Adam Ronchetti, Allison D Ebert, Aron Geurts and Duska J Sidjanin

    Citation: BMC Genetics 2014 15:135

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  4. Content type: Research article

    Success of meat production and selection for improvement of meat quality is among the primary aims in animal production. Meat quality traits are economically important in swine; however, the underlying genetic...

    Authors: Silvia Bongiorni, Francesca Tilesi, Silvia Bicorgna, Francesca Iacoponi, Daniela Willems, Maria Gargani, MariaSilvia D’Andrea, Fabio Pilla and Alessio Valentini

    Citation: BMC Genetics 2014 15:119

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  5. Content type: Research article

    Glycosphingolipids (GSLs) are important membrane components composed of a carbohydrate structure attached to a hydrophobic ceramide. They can serve as specific membrane receptors for microbes and microbial pro...

    Authors: Tiphanie Goetstouwers, Mario Van Poucke, Annelies Coddens, Van Ut Nguyen, Vesna Melkebeek, Dieter Deforce, Eric Cox and Luc J Peelman

    Citation: BMC Genetics 2014 15:103

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  6. Content type: Research article

    The novel organic cation transporter 2 (OCTN2) is the physiologically most important carnitine transporter in tissues and is responsible for carnitine absorption in the intestine, carnitine reabsorption in the...

    Authors: Huidi Luo, Yuanqing Zhang, Huihui Guo, Li Zhang, Xi Li, Robert Ringseis, Gaiping Wen, Dequan Hui, Aihua Liang, Klaus Eder and Dongchang He

    Citation: BMC Genetics 2014 15:90

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  7. Content type: Research article

    Traditional canola (Brassica napus L.; AACC, 2n = 38) cultivars yield seed oil with a relatively high proportion of α-linolenic acid (ALA; C18:3cisΔ9,12,15), which is desirable from a health perspective. Unfortun...

    Authors: Stacy D Singer, Randall J Weselake and Habibur Rahman

    Citation: BMC Genetics 2014 15:94

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  8. Content type: Research article

    The SPE-8 group gene products transduce the signal for spermatid activation initiated by extracellular zinc in C. elegans. Mutations in the spe-8 group genes result in hermaphrodite-derived spermatids that cannot...

    Authors: Paul J Muhlrad, Jessica N Clark, Ubaydah Nasri, Nicholas G Sullivan and Craig W LaMunyon

    Citation: BMC Genetics 2014 15:83

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  9. Content type: Methodology article

    Single-strand conformational polymorphism (SSCP) is still a frequently used genotyping method across different fields for the detection of single nucleotide polymorphisms (SNPs) due to its simplicity, requirem...

    Authors: Shavanthi Rajatileka, Karen Luyt, Maggie Williams, David Harding, David Odd, Elek Molnár and Anikó Váradi

    Citation: BMC Genetics 2014 15:80

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  10. Content type: Research article

    The aim of this study was to determine if variable number of tandem repeats (VNTR) in the second intron (STin2) of the serotonin transporter (SLC6A4) gene was associated with tobacco use disorder, successful smok...

    Authors: Márcia Regina Pizzo de Castro, Michael Maes, Roberta Losi Guembarovski, Carolina Batista Ariza, Edna Maria Vissoci Reiche, Heber Odebrecht Vargas, Mateus Medonça Vargas, Luiz Gustavo Piccoli de Melo, Seetal Dodd, Michael Berk, Maria Angelica Ehara Watanabe and Sandra Odebrecht Vargas Nunes

    Citation: BMC Genetics 2014 15:78

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  11. Content type: Research article

    Several lines of evidence associate misregulated genetic expression with risk factors for diabetes, Alzheimer’s, and other diseases that sporadically develop in healthy adults with no background of hereditary ...

    Authors: Minoru Nakayama, Tomoki Ishibashi, Hiroyuki O Ishikawa, Hiroyasu Sato, Takao Usui, Takayuki Okuda, Hiroyuki Yashiro, Hironori Ishikawa, Yoshie Taikou, Asako Minami, Kengo Kato, Masataka Taki, Toshiro Aigaki, Wataru Gunji, Masaya Ohtsu, Yasufumi Murakami…

    Citation: BMC Genetics 2014 15:46

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  12. Content type: Research article

    The molecular mechanisms causing pigment dispersion syndrome (PDS) and the pathway(s) by which it progresses to pigmentary glaucoma are not known. Mutations in two melanosomal protein genes (Tyrp1 ...

    Authors: K Saidas Nair, Jessica Barbay, Richard S Smith, Sharmila Masli and Simon WM John

    Citation: BMC Genetics 2014 15:42

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  13. Content type: Research article

    Phophoserine phosphatase-like (PSPHL) is expressed at significantly higher levels in breast tumors from African American women (AAW) compared to Caucasian women (CW). How overexpression of PSPHL contributes to ou...

    Authors: Seth Rummel, Cayla E Penatzer, Craig D Shriver and Rachel E Ellsworth

    Citation: BMC Genetics 2014 15:38

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  14. Content type: Research article

    Lipoxygenases are a family of enzymes which catalyse the hydroperoxidation of polyunsaturated fatty acids with a cis, cis-1,4-pentadiene to form conjugated hydroperoxydienes. Lipoxygenase-1 (LOX-1) in barley w...

    Authors: Hongxia Ye, Stefan Harasymow, Xiao-Qi Zhang, Blakely Paynter, Dianxing Wu, Michael Jones, Xiaoli Shu and Chengdao Li

    Citation: BMC Genetics 2014 15:36

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  15. Content type: Research article

    Few exceptions have been described from strict maternal inheritance of mitochondrial DNA in animals, including sea mussels (Mytilidae), clams (Donacidae, Veneridae and Solenidae) and freshwater mussels (Uniono...

    Authors: Tomasz J Sańko and Artur Burzyński

    Citation: BMC Genetics 2014 15:28

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  16. Content type: Research article

    Fatty acid desaturase 1 (FADS1) and 2 (FADS2) genes code respectively for the enzymes delta-5 and delta-6 desaturases which are rate limiting enzymes in the synthesis of polyunsaturated omega-3 and omega-6 fat...

    Authors: Eveline M Ibeagha-Awemu, Kingsley A Akwanji, Frédéric Beaudoin and Xin Zhao

    Citation: BMC Genetics 2014 15:25

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  17. Content type: Research article

    Mitochondrial cytopathies are characterized by a large variability of clinical phenotypes and severity. The amount of mutant mitochondrial DNA (mtDNA) in a cell, called the heteroplasmy level, is an important ...

    Authors: Yuhua Zhu, Shasha Huang, Dongyang Kang, Mingyu Han, Guojian Wang, Yongyi Yuan, Yu Su, Huijun Yuan, Suoqiang Zhai and Pu Dai

    Citation: BMC Genetics 2014 15:26

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  18. Content type: Research article

    There was ancient human selection on the wild progenitor of modern maize, Balsas teosinte, for decreased shoot branching (tillering), in order to allow more nutrients to be diverted to grain. Mechanistically, ...

    Authors: Amelie CM Gaudin, Sarah A McClymont, Sameh SM Soliman and Manish N Raizada

    Citation: BMC Genetics 2014 15:23

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  19. Content type: Research article

    VKORC1 has been identified some years ago as the gene encoding vitamin K epoxide reductase (VKOR) – the target protein for coumarin derivates like warfarin or phenprocoumon. Resistance against warfarin and oth...

    Authors: Elisabeth Müller, Alexander Keller, Andreas Fregin, Clemens R Müller and Simone Rost

    Citation: BMC Genetics 2014 15:17

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