Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

Nature ◽  
1993 ◽  
Vol 362 (6418) ◽  
pp. 370-373 ◽  
Author(s):  
Y. Paul Goldberg ◽  
Johanna M. Rommens ◽  
Susan E. Andrew ◽  
Gordon B. Hutchinson ◽  
Biaoyang Lin ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Candidate Gene ◽  
Huntington’S Disease ◽  
Close Proximity ◽  
Strong Candidate ◽  
Strong Candidate Gene

P95 MRAS – A STRONG CANDIDATE GENE (SCG) FOR CORONARY ARTERY DISEASE (CAD)

2010 ◽  
Vol 11 (2) ◽  
pp. 36
Author(s):  
J. Freyer ◽  
A.K. Wagner ◽  
H. Schunkert ◽  
J.-J. Zwaginga ◽  
Z. Aherrahrou ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Candidate Gene ◽  
Artery Disease ◽  
Strong Candidate ◽  
Strong Candidate Gene

scholarly journals <i>UBXN1</i> is a strong candidate gene in regulation of pork water-holding capacity

2021 ◽  
Vol 64 (1) ◽  
pp. 109-118
Author(s):  
Jiawen He ◽  
Xiangsheng Lin ◽  
Haoxin Yang ◽  
Ye Tian ◽  
Yuelei Zhao ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Promoter Region ◽  
Mrna Level ◽  
Water Holding Capacity ◽  
Luciferase Assay ◽  
Large White ◽  
Allele Distribution ◽  
Strong Candidate ◽  
Water Holding ◽  
Strong Candidate Gene

Abstract. The UBX domain containing protein 1-like gene (UBXN1) promotes the degradation of myofibrillar proteins during meat maturation, which affects meat water-holding capacity (WHC). This study aims to identify functional mutations in UBXN1 promoter region, which affects the transcription activity and therefore the WHC. Firstly, we confirmed that the UBXN1 expression level was positively associated with WHC. Individuals with high and low WHC (n=16 per group) were selected from 168 Duroc × Large White × Yorkshire (D × L × Y) crossbred pigs. The UBXN1 promoter region was comparatively sequenced using DNA pools from these two groups, and a mutation ca. −379T > G was revealed that had reverse allele distribution. The single nucleotide polymorphism (SNP) was then genotyped in the abovementioned population. TT genotype individuals exhibited higher UBXN1 mRNA level and higher WHC compared with GG genotype ones. Further luciferase assay confirmed that TT genotype promoter had higher activity. Moreover, the degradation of cytoskeletal framework proteins of muscle cells like desmin, synemin, dystrophin, and vinculin was higher in TT genotype individuals than GG ones. In conclusion, we identified a SNP in the UBXN1 gene promoter that contributes to WHC improvement and pork quality. And UBXN1 is a strong candidate gene in regulation of pork WHC.

scholarly journals A strong candidate gene for the Papg1 locus on mouse chromosome 4 affecting lung tumor progression

Oncogene ◽  
2002 ◽  
Vol 21 (38) ◽  
pp. 5960-5966 ◽  
Author(s):  
Zhongqiu Zhang ◽  
Yian Wang ◽  
Christopher R Herzog ◽  
Gongjie Liu ◽  
Han-Woong Lee ◽  
...  
Keyword(s):  
Tumor Progression ◽  
Candidate Gene ◽  
Mouse Chromosome ◽  
Lung Tumor ◽  
Chromosome 4 ◽  
Strong Candidate ◽  
Strong Candidate Gene

scholarly journals Two loci on chromosome 9 control bile acid composition: evidence that a strong candidate gene,Cyp8b1, is not the culprit

2006 ◽  
Vol 47 (9) ◽  
pp. 2020-2027 ◽  
Author(s):  
Ephraim Sehayek ◽  
Lee R. Hagey ◽  
Yee-Yan Fung ◽  
Elizabeth M. Duncan ◽  
Hannah J. Yu ◽  
...  
Keyword(s):  
Bile Acid ◽  
Candidate Gene ◽  
Acid Composition ◽  
Chromosome 9 ◽  
Strong Candidate ◽  
Strong Candidate Gene

Abnormalities in extracellular glycine and glutamate levels in the striatum of sandy mice

2013 ◽  
Vol 25 (4) ◽  
pp. 215-220
Author(s):  
Yuji Kitaichi ◽  
Ryota Hashimoto ◽  
Takeshi Inoue ◽  
Tomohiro Abekawa ◽  
Aya Kakuta ◽  
...  
Keyword(s):  
Amino Acids ◽  
Candidate Gene ◽  
Glutamate Release ◽  
Glutamatergic Neurotransmission ◽  
Wild Type ◽  
Extracellular Glutamate ◽  
Strong Candidate ◽  
The Relationship ◽  
Strong Candidate Gene

ObjectiveGlycine regulates glutamatergic neurotransmission, and several papers have reported the relationship between glycine and schizophrenia. The dysbindin-1 (DTNBP1: dystrobrevin-binding protein 1) gene is related to glutamatergic neurotransmission and has been found to be a strong candidate gene for schizophrenia. In this study, we clarified the relationship between dysbindin, glutamate, and glycine with in vivo microdialysis methods.MethodsWe measured extracellular glycine and glutamate levels in the striatum of sandy (sdy) mice using in vivo microdialysis methods. Sdy mice express no dysbindin protein owing to a deletion in the dysbindin-1 gene. In addition, we measured changes in those amino acids after methamphetamine (METH) administration.ResultsThe basal levels of extracellular glycine and glutamate in the striatum of sdy mice were elevated. These extracellular glutamate levels decreased gradually after METH administration and were not subsequently different from those of wild-type mice.ConclusionsThese results suggest that dysbindin might modulate glycine and glutamate release in vivo.

scholarly journals Polymorphism in BPM-15 gene and its association with litter size in Anglo-Nubian goat

2013 ◽  
Vol 29 (4) ◽  
pp. 675-683 ◽  
Author(s):  
S.M. Abdel-Rahman ◽  
Y.A. Mustafa ◽  
Errasool Abd ◽  
A.A. El-Hanafy ◽  
A.M. Elmaghraby
Keyword(s):  
Candidate Gene ◽  
Litter Size ◽  
Gene Polymorphisms ◽  
Marker Assisted Selection ◽  
Pcr Amplification ◽  
The Other ◽  
Breeding Value ◽  
Blood Samples ◽  
Strong Candidate ◽  
Strong Candidate Gene

For association between BMP-15 (exon2) gene polymorphisms and litter size trait in Anglo-Nubian goat, PCR-SSCP technique was developed. Twenty-five female Anglo-Nubian goats reared under Egyptian conditions were selected according to their litter size. DNA from blood samples of these animals was extracted to amplify 140-bp of the BMP-15 gene affecting litter size production trait in goats. Based on the breeding value, 25 animals were selected from the highest to the lowest litter size productivity. PCR amplification size of the BMP-15 gene (140-bp) was genotyped in all animals. PCR-SSCP analysis of the BMP-15 gene (140-bp) showed three various genotypes BB, BM and MM with frequencies 0.46, 0.43 and 0.11, respectively. The frequencies of the B and M alleles were 0.68 and 0.32, respectively. The results indicated that the BB genotype was higher in litter size productivity than the other genotypes with significant differences. The result of this study confirmed that BMP-15 gene may be a strong candidate gene for further applications in marker-assisted selection (MAS) for litter size in goats.

scholarly journals ATP-Dependent Clp Protease Subunit C1, HvClpC1, Is a Strong Candidate Gene for Barley Variegation Mutant luteostrians as Revealed by Genetic Mapping and Genomic Re-sequencing

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingjiu Li ◽  
Ganggang Guo ◽  
Hélène Pidon ◽  
Michael Melzer ◽  
Alberto R. Prina ◽  
...  
Keyword(s):  
Genetic Mapping ◽  
Candidate Gene ◽  
Genetic Screens ◽  
Forward Genetic Screens ◽  
Strong Candidate ◽  
Whole Genome Resequencing ◽  
Functional Analyses ◽  
Generation Sequencing ◽  
Candidate Identification ◽  
Strong Candidate Gene

Implementation of next-generation sequencing in forward genetic screens greatly accelerated gene discovery in species with larger genomes, including many crop plants. In barley, extensive mutant collections are available, however, the causative mutations for many of the genes remains largely unknown. Here we demonstrate how a combination of low-resolution genetic mapping, whole-genome resequencing and comparative functional analyses provides a promising path toward candidate identification of genes involved in plastid biology and/or photosynthesis, even if genes are located in recombination poor regions of the genome. As a proof of concept, we simulated the prediction of a candidate gene for the recently cloned variegation mutant albostrians (HvAST/HvCMF7) and adopted the approach for suggesting HvClpC1 as candidate gene for the yellow-green variegation mutant luteostrians.

scholarly journals STAG3 is a strong candidate gene for male infertility

2014 ◽  
Vol 23 (13) ◽  
pp. 3421-3431 ◽  
Author(s):  
Elena Llano ◽  
Laura Gomez-H ◽  
Ignacio García-Tuñón ◽  
Manuel Sánchez-Martín ◽  
Sandrine Caburet ◽  
...  
Keyword(s):  
Male Infertility ◽  
Candidate Gene ◽  
Strong Candidate ◽  
Strong Candidate Gene
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