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1. The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

Author:
Safka Brozkova, Dana; Uhrova Meszarosova, Anna; Lassuthova, Petra; Varga, Lukáš; Staněk, David; Borecká, Silvia; Laštůvková, Jana; Čejnová, Vlasta; Rašková, Dagmar; Lhota, Filip; Gašperíková, Daniela; Seeman, Pavel
Source:
Genes 2021 v.12 no.5
ISSN:
2073-4425
Subject:
loci,   etc   ; genes; heterozygosity;     Show all 3 Subjects
Abstract:
... Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic GJB2 variant are two times more prevalent amo ...
DOI:
10.3390/genes12050684

2. Estrus Behaviour and Reproductive Traits of Pulawska Gilts Associated with Selected Gene Polymorphisms

Author:
Babicz, Marek; Pastwa, Marcin; Szyndler-Nędza, Magdalena; Kozubska-Sobocińska, Anna; Danielak-Czech, Barbara; Kropiwiec-Domańska, Kinga; Skrzypczak, Ewa; Ślaska, Brygida; Kapusta, Damian
Source:
Annals of animal science 2021 v.21 no.1 pp. 159-172
ISSN:
2300-8733
Subject:
loci,   etc   ; estrus; genes; genotype;     Show all 4 Subjects
Abstract:
... Searching for the associations between the gene polymorphism and the reproductive traits is essential in defining the genetic native breed specificity, which distinguishes them from the other breeds. The aim of our study was to determine the associations between mutations in the PRL, PRLR, PTGS2, FUT1 genes and sexual and periparturient activity in native Pulawska gilts. The analysis included 72 a ...
DOI:
10.2478/aoas-2020-0066

3. Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A

Author:
Umair, Muhammad; Palander, Oliva; Bilal, Muhammad; Almuzzaini, Bader; Alam, Qamre; Ahmad, Farooq; Younus, Muhammad; Khan, Amjad; Waqas, Ahmed; Rafeeq, Misbahuddin M; Alfadhel, Majid
Source:
Genomics 2021 v.113 no.4 pp. 2495-2502
ISSN:
0888-7543
Subject:
loci,   etc   ; Dachshund; genes; genomics; microscopy;     Show all 5 Subjects
Abstract:
... Polydactyly or hexadactyly is characterized by an extra digit/toe with or without a bone. Currently, variants in ten genes have been implicated in the non-syndromic form of polydactyly.DNA from a single affected individual having bilateral postaxial polydactyly was subjected to whole exome sequencing (WES), followed by Sanger sequencing. Homology modeling was performed for the identified variant a ...
DOI:
10.1016/j.ygeno.2021.05.015

4. Low stutter ratio by SuperFi polymerase

Author:
Yamanoi, Eisuke; Sakurada, Makoto; Ueno, Yasuhiro
Source:
Forensic science international 2021 v.3 pp. 100201
ISSN:
2665-9107
Subject:
loci,   etc   ; DNA; droplets; forensic sciences;     Show all 4 Subjects
Abstract:
... Although stutter is a well-known artifact of STR amplification for DNA typing, it is very difficult to reduce. In this study, we determined whether stutter could be reduced by PCR using previously untested high-performance polymerases, or by droplet PCR that reduced the reaction volume to approximately 1 nL. At the D5S818 locus, our results using control DNA 9948 as a template showed that decreasi ...
DOI:
10.1016/j.fsir.2021.100201

5. Regulation of Flowering Time: When and Where?

Author:
Freytes, Santiago Nicolás; Canelo, Micaela; Cerdán, Pablo D.
Source:
Current opinion in plant biology 2021 v.63 pp. 102049
ISSN:
1369-5266
Subject:
loci,   etc   ; apical meristems; circadian clocks; flowers; leaves;     Show all 5 Subjects
Abstract:
... In seasonal flowering, plants need to monitor environmental variables. A combination of photoreceptors and the circadian clock initiate signals that regulate a network of genes in the leaf vascular system which communicates through mobile FLOWERING LOCUS T (FT) proteins, with the shoot apical meristem (SAM). At the SAM, a second network of genes is turned on specifically in certain cell domains, e ...
DOI:
10.1016/j.pbi.2021.102049

6. Regulation of flowering time by ambient temperature: repressing the repressors and activating the activators

Author:
Jin, Suhyun; Ahn, Ji Hoon
Source:
Thenew phytologist 2021 v.230 no.3 pp. 938-942
ISSN:
0028-646X
Subject:
loci,   etc   ; ambient temperature; climate change; phytochrome;     Show all 4 Subjects
Abstract:
... Plants display remarkable developmental flexibility as they continuously sense and respond to changes in their environment. This flexibility allows them to select the optimal timing for critical developmental decisions such as when to flower. Ambient temperature is a major environmental factor that influences flowering; the mechanisms involved in ambient temperature‐responsive flowering have attra ...
DOI:
10.1111/nph.17217

7. Identifying new variation at the J locus, previously identified as e6, in long juvenile ‘Paranagoiana’ soybean

Author:
Nissan, Nour; Cober, Elroy R.; Sadowski, Michael; Charette, Martin; Golshani, Ashkan; Samanfar, Bahram
Source:
Theoretical and applied genetics 2021 v.134 no.4 pp. 1007-1014
ISSN:
0040-5752
Subject:
loci,   etc   ; alleles; exons; juveniles; retrotransposons; soybeans;     Show all 6 Subjects
Abstract:
... KEY MESSAGE: A previously identified soybean maturity locus, E6, is discovered to be J, with the long juvenile allele in Paranagoiana now deemed j−x. Soybean grown at latitudes of ~20° or lower can produce lower grain yields due to the short days. This limitation can be overcome by using the long juvenile trait (LJ) which delays flowering under short day conditions. Two LJ loci have been mapped to ...
DOI:
10.1007/s00122-020-03746-2

8. NF‐Y plays essential roles in flavonoid biosynthesis by modulating histone modifications in tomato

Author:
Wang, Jiafa; Li, Guobin; Li, Changxing; Zhang, Chunli; Cui, Long; Ai, Guo; Wang, Xin; Zheng, Fangyan; Zhang, Dedi; Larkin, Robert M.; Ye, Zhibiao; Zhang, Junhong
Source:
Thenew phytologist 2021 v.229 no.6 pp. 3237-3252
ISSN:
0028-646X
Subject:
loci,   etc   ; biosynthesis; flavonoids; fruits; histones; horticulture; tomatoes;     Show all 7 Subjects
Abstract:
... NF‐Y transcription factors are reported to play diverse roles in a wide range of biological processes in plants. However, only a few active NF‐Y complexes are known in plants and the precise functions of NF‐Y complexes in flavonoid biosynthesis have not been determined. Using various molecular, genetic and biochemical approaches, we found that NF‐YB8a, NF‐YB8b and NF‐YB8c – a NF‐YB subgroup – can ...
DOI:
10.1111/nph.17112

9. Detection of a major QTL conditioning trichome length and density on chromosome arm 4BL and development of near isogenic lines targeting this locus in bread wheat

Author:
Chen, Zhitong; Zheng, Zhi; Luo, Wei; Zhou, Hong; Ying, Zhaoyang; Liu, Chunji
Source:
Molecular breeding 2021 v.41 no.2 pp. 10
ISSN:
1380-3743
Subject:
loci,   etc   ; alleles; flowering; heterozygosity; trichomes; wheat;     Show all 6 Subjects
Abstract:
... Trichomes are differentiated epidermal cells and can be found on above ground organs of nearly all land plants. Results from previous studies show that trichomes play important roles against a wide range of both biotic and abiotic stresses. By examining differences between parental genotypes of available populations, we identified a population of recombinant inbred lines showing clear segregation ...
DOI:
10.1007/s11032-021-01201-8

10. Genetic Structure of the Population of Holstein Black-and-White Cattle by Microsatellite Loci

Author:
Shatalina, O. S.; Tkachenko, I. V.; Yaryshkin, A. A.
Source:
Russian journal of genetics 2021 v.57 no.2 pp. 196-203
ISSN:
1022-7954
Subject:
loci,   etc   ; Holstein; alleles; cattle; heterozygosity; microsatellite repeats;     Show all 6 Subjects
Abstract:
... This article presents the results of a study of the genetic structure of a cattle population at 12 microsatellite loci. The object of the study was 702 specimens of cattle of Holstein black-motley breed. It was found that on average the heterozygosity of animals at the loci was 78.3%. The average number of alleles per locus was 7.0 ± 0.08. The most widespread in the population was the 248 bp allel ...
DOI:
10.1134/S1022795421020095

11. A circuit logic for sexually shared and dimorphic aggressive behaviors in Drosophila

Author:
Chiu, Hui; Hoopfer, Eric D.; Coughlan, Maeve L.; Pavlou, Hania J.; Goodwin, Stephen F.; Anderson, David J.
Source:
Cell 2021 v.184 no.2 pp. 507-520.e16
ISSN:
0092-8674
Subject:
loci,   etc   ; Drosophila; aggression; brain; females; males;     Show all 6 Subjects
Abstract:
... Aggression involves both sexually monomorphic and dimorphic actions. How the brain implements these two types of actions is poorly understood. We have identified three cell types that regulate aggression in Drosophila: one type is sexually shared, and the other two are sex specific. Shared common aggression-promoting (CAP) neurons mediate aggressive approach in both sexes, whereas functionally dow ...
DOI:
10.1016/j.cell.2020.11.048

12. Enhancing backcross programs through increased recombination

Author:
Tourrette, Elise; Falque, Matthieu; Martin, Olivier C.
Source:
Genetics, selection, evolution 2021 v.53 no.1 pp. 25
ISSN:
1297-9686
Subject:
loci; quantitative trait loci,   etc   ; Brassicaceae; alleles; backcrossing; evolution; genetic background; introgression;     Show all 8 Subjects
Abstract:
... BACKGROUND: Introgression of a quantitative trait locus (QTL) by successive backcrosses is used to improve elite lines (recurrent parent) by introducing alleles from exotic material (donor parent). In the absence of selection, the proportion of the donor genome decreases by half at each generation. However, since selection is for the donor allele at the QTL, elimination of the donor genome around ...
DOI:
10.1186/s12711-021-00619-0

13. Mapping QTLs for yield component traits using overwintering cultivated rice

Author:
CHEN, JIAO; TAI, LINYU; LUO, LAN; XIANG, JING; ZHAO, ZHENGWU
Source:
Journal of genetics 2021 v.100 no.2 pp. 31
ISSN:
0022-1333
Subject:
loci; quantitative trait loci,   etc   ; epistasis; gene ontology; overwintering; rice; yield components;     Show all 7 Subjects
Abstract:
... The present study conducted QTL (quantitative trait locus) mapping using F₂ and F₂:₃ generations derived from a cross between an overwintering cultivated rice Nuodao89-1 and Shuhui527, to identify potential yield component related QTLs. A total of 37 QTLs were detected across all chromosome except chromosome 7, with LOD values ranging from 3.10 to 12.67. Three QTLs including qTGW3.1, qTGW6.1 and q ...
DOI:
10.1007/s12041-021-01279-1

14. Genetic characterization of qSCN10 from an exotic soybean accession PI 567516C reveals a novel source conferring broad-spectrum resistance to soybean cyst nematode

Author:
Zhou, Lijuan; Song, Li; Lian, Yun; Ye, Heng; Usovsky, Mariola; Wan, Jinrong; Vuong, Tri D.; Nguyen, Henry T.
Source:
Theoretical and applied genetics 2021 v.134 no.3 pp. 859-874
ISSN:
0040-5752
Subject:
loci; quantitative trait loci,   etc   ; Heterodera glycines; cultivars; genetic resistance; haplotypes; landraces; pests; phylogeny; soybeans;     Show all 10 Subjects
Abstract:
... KEY MESSAGE: The qSCN10 locus with broad-spectrum SCN resistance was fine-mapped to a 379-kb region on chromosome 10 in soybean accession PI 567516C. Candidate genes and potential application benefits of this locus were discussed. Soybean cyst nematode (SCN, Heterodera glycines Ichinohe) is one of the most devastating pests of soybean, causing significant yield losses worldwide every year. Genetic ...
DOI:
10.1007/s00122-020-03736-4

15. Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9

Author:
Goudie, David
Source:
Genes 2020 v.11 no.12
ISSN:
2073-4425
Subject:
loci,   etc   ; ; ancestry; haplotypes;     Show all 4 Subjects
Abstract:
... MSSE (Ferguson-Smith disease) is a rare familial condition in which multiple skin tumors resembling squamous carcinomas invade locally and then regress spontaneously after several months, leaving disfiguring scars. We review evidence from haplotype studies in MSSE families with common ancestry that the condition is caused by loss of function mutations in TGFBR1 interacting with permissive variants ...
DOI:
10.3390/genes11121410

16. TGIF1 and SF1 polymorphisms are associated with litter size in Small Tail Han sheep

Author:
Zhang, Zhuangbiao; He, Xiaoyun; Liu, Qiuyue; Tang, Jishun; Di, Ran; Chu, Mingxing
Source:
Reproduction in domestic animals 2020 v.55 no.9 pp. 1145-1153
ISSN:
0936-6768
Subject:
loci,   etc   ; litter size; mutation;     Show all 3 Subjects
Abstract:
... TGF‐β induced factor homeobox 1 (TGIF1) and splicing factor 1 (SF1) are important for mammalian reproduction; however, the effects of these genes on litter size in sheep remain unexplored. In this study, we genotyped 768 ewes from seven sheep breeds at two loci: g.37871539C>T, a synonymous mutation of TGIF1; and g.42314637T>C, a 3′UTR variant of SF1. Our analysis of polymorphism revealed only two ...
DOI:
10.1111/rda.13753

17. The Effect of Different Dominant VRN Alleles and Their Combinations on the Duration of Developmental Phases and Productivity in Common Wheat Lines

Author:
Chumanova, E. V.; Efremova, T. T.; Kruchinina, Yu. V.
Source:
Russian journal of genetics 2020 v.56 no.7 pp. 822-834
ISSN:
1022-7954
Subject:
loci,   etc   ; cultivars; organogenesis; wheat;     Show all 4 Subjects
Abstract:
... Using allele-specific primers and hybridological analysis, the allelic composition of the VRN and PPD loci was determined in common wheat lines derived from the Bezostaya 1 (Bez1) cultivar. In lines of the Bez1 cultivar carrying different dominant alleles of the VRN genes and their combinations, the duration of certain developmental phases was examined. It was demonstrated that, in lines with the ...
DOI:
10.1134/S1022795420070029

18. Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

Author:
Barbeira, Alvaro N.; Bonazzola, Rodrigo; Gamazon, Eric R.; Liang, Yanyu; Park, YoSon; Kim-Hellmuth, Sarah; Wang, Gao; Jiang, Zhuoxun; Zhou, Dan; Hormozdiari, Farhad; Liu, Boxiang; Rao, Abhiram; Hamel, Andrew R.; Pividori, Milton D.; Aguet, François; Bastarache, Lisa; Jordan, Daniel M.; Verbanck, Marie; Do, Ron; Stephens, Matthew; Ardlie, Kristin; McCarthy, Mark; Montgomery, Stephen B.; Segrè, Ayellet V.; Brown, Christopher D.; Lappalainen, Tuuli; Wen, Xiaoquan; Im, Hae Kyung
Source:
Genome biology 2021 v.22 no.1 pp. 49
ISSN:
1474-760X
Subject:
loci,   etc   ; RNA; dose response; genes; human diseases; methodology; phenotype; transcriptome;     Show all 8 Subjects
Abstract:
... The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulation and a blueprint for the functional interpretation of genome-wide association study-discovered loci. Across a broad set of complex traits and diseases, we de ...
DOI:
10.1186/s13059-020-02252-4

19. Molecular characterization of a 'Candidatus Phytoplasma asteris'-related strain (16SrI-B / cpn60UT I-IB) affecting daisies (Argyranthemum spp.) in Mexico

Author:
García-Barrera, Laura J.; Flores, Alejandra Chamorro; Zamora, Stefani Aletse Meza; Ortíz-Gamino, Diana; Dumonceaux, Tim J.; Pérez-López, Edel
Source:
Australasian plant disease notes 2021 v.16 no.1 pp. 2
ISSN:
1833-928X
Subject:
loci,   etc   ; Argyranthemum; chaperonins; computer software; flowers; phyllody; sequence analysis; Mexico;     Show all 8 Subjects
Abstract:
... From 2018 to 2019 symptoms consistent with infection by plant pathogenic phytoplasma bacteria were observed in commercial flower greenhouses located in Atlixco, Puebla, Mexico. Two varieties of Argyranthemum spp. plants exhibited symptoms of phyllody, causing serious concerns among farmers. To determine if phytoplasmas were associated with the symptomatic plants, the 16S rRNA-encoding locus (F2nR2 ...
DOI:
10.1007/s13314-020-00415-7

20. Targeted amplicon sequencing + next-generation sequencing–based bulked segregant analysis identified genetic loci associated with preharvest sprouting tolerance in common buckwheat (Fagopyrum esculentum)

Author:
Takeshima, Ryoma; Ogiso-Tanaka, Eri; Yasui, Yasuo; Matsui, Katsuhiro
Source:
BMC plant biology 2021 v.21 no.1 pp. 18
ISSN:
1471-2229
Subject:
quantitative trait loci,   etc   ; Fagopyrum esculentum; buckwheat; outcrossing; pseudocereals;     Show all 5 Subjects
Abstract:
... BACKGROUND: Common buckwheat (2n = 2x = 16) is an outcrossing pseudocereal whose seeds contain abundant nutrients and potential antioxidants. As these beneficial compounds are damaged by preharvest sprouting (PHS) and PHS is likely to increase with global warming, it is important to find efficient ways to develop new PHS-tolerant lines. However, genetic loci and selection markers associated with P ...
DOI:
10.1186/s12870-020-02790-w