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Genetics, Development and Cell Biology Publications

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Full-Text Articles in Molecular Biology

Mutations In Tubb8 And Human Oocyte Meiotic Arrest, Ruizhi Feng, Qing Sang, Yanping Kuang, Xiaoxi Sun, Zheng Yan, Shaozhen Zhang, Juanzi Shi, Guoling Tian, Anna Luchniak, Yusuke Fukuda, Bin Li, Min Yu, Junling Chen, Yao Xu, Luo Guo, Ronggui Qu, Xueqian Wang, Zhaogui Sun, Miao Liu, Huijuan Shi, Hongyan Wang, Yi Feng, Ruijin Shao, Renjie Chai, Qiaoli Li, Qinghe Xing, Rui Zhang, Eva Nogales, Li Jin, Lin He, Mohan L. Gupta Jr., Nicholas J. Cowan, Lei Wang Jan 2016

Mutations In Tubb8 And Human Oocyte Meiotic Arrest, Ruizhi Feng, Qing Sang, Yanping Kuang, Xiaoxi Sun, Zheng Yan, Shaozhen Zhang, Juanzi Shi, Guoling Tian, Anna Luchniak, Yusuke Fukuda, Bin Li, Min Yu, Junling Chen, Yao Xu, Luo Guo, Ronggui Qu, Xueqian Wang, Zhaogui Sun, Miao Liu, Huijuan Shi, Hongyan Wang, Yi Feng, Ruijin Shao, Renjie Chai, Qiaoli Li, Qinghe Xing, Rui Zhang, Eva Nogales, Li Jin, Lin He, Mohan L. Gupta Jr., Nicholas J. Cowan, Lei Wang

Genetics, Development and Cell Biology Publications

BACKGROUND Human reproduction depends on the fusion of a mature oocyte with a sperm cell to form a fertilized egg. The genetic events that lead to the arrest of human oocyte maturation are unknown.

METHODS We sequenced the exomes of five members of a four-generation family, three of whom had infertility due to oocyte meiosis I arrest. We performed Sanger sequencing of a candidate gene, TUBB8, in DNA samples from these members, additional family members, and members of 23 other affected families. The expression of TUBB8 and all other β-tubulin isotypes was assessed in human oocytes, early embryos, sperm cells ...


Tol2 Gene Trap Integrations In The Zebrafish Amyloid Precursor Protein Genes Appa And Aplp2 Reveal Accumulation Of Secreted App At The Embryonic Veins, Hsin-Kai Liao, Ying Wang, Kristin E. Watt, Qin Wen, Justin Breitback, Chelsy K. Kemmet, Karl J. Clark, Stephen C. Ekker, Jeffrey J. Essner, Maura Mcgrail Feb 2012

Tol2 Gene Trap Integrations In The Zebrafish Amyloid Precursor Protein Genes Appa And Aplp2 Reveal Accumulation Of Secreted App At The Embryonic Veins, Hsin-Kai Liao, Ying Wang, Kristin E. Watt, Qin Wen, Justin Breitback, Chelsy K. Kemmet, Karl J. Clark, Stephen C. Ekker, Jeffrey J. Essner, Maura Mcgrail

Genetics, Development and Cell Biology Publications

Background—The single spanning transmembrane amyloid precursor protein (APP) and its proteolytic product, amyloid-beta (Aβ) peptide, have been intensely studied due to their role in the pathogenesis of Alzheimer’s disease. However, the biological role of the secreted ectodomain of APP, which is also generated by proteolytic cleavage, is less well understood. Here, we report Tol2 red fluorescent protein (RFP) transposon gene trap integrations in the zebrafish amyloid precursor protein a (appa) and amyloid precursor-like protein 2 (aplp2) genes. The transposon integrations are predicted to disrupt the appa and aplp2 genes to primarily produce secreted ectodomains of the corresponding proteins ...