scholarly journals A novel allele, HLA‐C *15:227 , identified when typing COVID ‐19 patients

HLA ◽  
2021 ◽  
Author(s):  
Valery Cheranev ◽  
Maria Loginova ◽  
Tatjana Jankevic ◽  
Svetlana Kutyavina ◽  
Denis Rebrikov
Keyword(s):  
Novel Allele

Identification of a novel allele HLA-A*1149 in a Chinese leukemia patient

2010 ◽  
Vol 76 (3) ◽  
pp. 250-251 ◽  
Author(s):  
L.-X. Yan ◽  
F.-M. Zhu ◽  
W. Wang ◽  
W. Zhang ◽  
H.-J. Lv
Keyword(s):  
Leukemia Patient ◽  
Novel Allele

Sequence‐based typing identification of the novel allele HLA‐A *30:170

HLA ◽  
2021 ◽  
Author(s):  
Xiu‐Min Shi ◽  
Rui‐Ping Hu ◽  
Pei‐Tong Li ◽  
Wei Han ◽  
Su‐Jun Gao
Keyword(s):  
The Novel ◽  
Novel Allele

scholarly journals A novel allele for inducible Cre expression in germinal center B cells

2018 ◽  
Vol 49 (1) ◽  
pp. 192-194 ◽  
Author(s):  
Timm Weber ◽  
Jane Seagal ◽  
Wiebke Winkler ◽  
Tristan Wirtz ◽  
Van Trung Chu ◽  
...  
Keyword(s):  
B Cells ◽  
Germinal Center ◽  
Novel Allele ◽  
Germinal Center B Cells

scholarly journals Novel allele-dependent role for APOE in controlling the rate of synapse pruning by astrocytes

2016 ◽  
Vol 113 (36) ◽  
pp. 10186-10191 ◽  
Author(s):  
Won-Suk Chung ◽  
Philip B. Verghese ◽  
Chandrani Chakraborty ◽  
Julia Joung ◽  
Bradley T. Hyman ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Late Onset ◽  
Protein Accumulation ◽  
Cell Type ◽  
Phagocytic Capacity ◽  
Central Nervous System Cell ◽  
System Cell ◽  
Novel Allele ◽  
Classical Complement ◽  
Rate Of Accumulation

The strongest genetic risk factor influencing susceptibility to late-onset Alzheimer’s disease (AD) is apolipoprotein E (APOE) genotype. APOE has three common isoforms in humans, E2, E3, and E4. The presence of two copies of the E4 allele increases risk by ∼12-fold whereas E2 allele is associated with an ∼twofold decreased risk for AD. These data put APOE central to AD pathophysiology, but it is not yet clear how APOE alleles modify AD risk. Recently we found that astrocytes, a major central nervous system cell type that produces APOE, are highly phagocytic and participate in normal synapse pruning and turnover. Here, we report a novel role for APOE in controlling the phagocytic capacity of astrocytes that is highly dependent on APOE isoform. APOE2 enhances the rate of phagocytosis of synapses by astrocytes, whereas APO4 decreases it. We also found that the amount of C1q protein accumulation in hippocampus, which may represent the accumulation of senescent synapses with enhanced vulnerability to complement-mediated degeneration, is highly dependent on APOE alleles: C1q accumulation was significantly reduced in APOE2 knock-in (KI) animals and was significantly increased in APOE4 KI animals compared with APOE3 KI animals. These studies reveal a novel allele-dependent role for APOE in regulating the rate of synapse pruning by astrocytes. They also suggest the hypothesis that AD susceptibility of APOE4 may originate in part from defective phagocytic capacity of astrocytes which accelerates the rate of accumulation of C1q-coated senescent synapses, enhancing synaptic vulnerability to classical-complement-cascade mediated neurodegeneration.

scholarly journals Identification and Characterization of a Novel Allele of Caenorhabditis elegans bbs-7

PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e113737 ◽  
Author(s):  
Kara Braunreiter ◽  
Shelby Hamlin ◽  
Jamie Lyman-Gingerich
Keyword(s):  
Caenorhabditis Elegans ◽  
Identification And Characterization ◽  
Novel Allele

scholarly journals Characterization of the ‘Oat-Like Rice’ Caused by a Novel Allele OsMADS1Olr Reveals Vital Importance of OsMADS1 in Regulating Grain Shape in Oryza sativa L.

Rice ◽  
2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Penghui Li ◽  
Hui Li ◽  
Zhijian Liu ◽  
Yong Zhuang ◽  
Ming Wei ◽  
...  
Keyword(s):  
Transgenic Plants ◽  
Point Mutation ◽  
Grain Shape ◽  
Dominant Negative Effect ◽  
Mads Box ◽  
Grain Development ◽  
Seed Setting ◽  
Seed Setting Rate ◽  
Novel Allele

Abstract Background Grain shape is a critical agronomic trait affecting grain yield and quality. Exploration and functional characterization of grain shape-related genes will facilitate rice breeding for higher quality and yield. Results Here, we characterized a recessive mutant named Oat-like rice for its unique grain shape which highly resembles oat grains. The Oat-like rice displayed abnormal floral organs, an open hull formed by remarkably elongated leafy lemmas and paleae, occasionally formed conjugated twin brown rice, an aberrant grain shape and a low seed setting rate. By map-based cloning, we discovered that Oat-like rice harbors a novel allele of OsMADS1 gene (OsMADS1Olr), which has a spontaneous point mutation that causes the substitution of an amino acid that is highly conserved in the MADS-box domain of the MADS-box family. Further linkage analysis indicated that the point mutation in the OsMADS1Olr is associated with Oat-like rice phenotype, and expression analysis of the OsMADS1 by qRT-PCR and GUS staining also indicated that it is highly expressed in flower organs as well as in the early stages of grain development. Furthermore, OsMADS1Olr-overexpressing plants showed similar phenotypes of Oat-like rice in grain shape, possibly due to the dominant negative effect. And OsMADS1-RNAi plants also displayed grain phenotypes like Oat-like rice. These results suggested that OsMADS1Olr is responsible for the Oat-like rice phenotype including aberrant grain shape. Moreover, the expression levels of representative genes related to grain shape regulation were apparently altered in Oat-like rice, OsMADS1Olr-overexpressing and OsMADS1-RNAi transgenic plants. Finally, compared with Oat-like rice, OsMADS1Olr-overexpressing and OsMADS1-RNAi plants, mild phenotype of seed-specific OsMADS1-RNAi transgenic plants indicated that OsMADS1 may has has a direct regulation role in grain development and the grain phenotypes of Oat-like rice, OsMADS1Olr-overexpressing and OsMADS1-RNAi plants are majorly caused by the abnormal lemma and palea development. Conclusions Altogether, our results showed that grain shape and a low seed setting rate of the notable ‘Oat-like rice’ are caused by a spontaneous point mutation in the novel allele OsMADS1Olr. Furthermore, our findings suggested that OsMADS1 mediates grain shape possibly by affecting the expression of representative genes related to grain shape regulation. Thus, this study not only revealed that OsMADS1 plays a vital role in regulating grain shape of rice but also highlighted the importance and value of OsMADS1 to improve the quality and yield of rice by molecular breeding.

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