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组会 15/03/21

演讲人: 陈双慧

时间: 14:30 – 15:30, 2021年03月15日

地点: 315会议室, 生科大楼

工作进展:Estimation of Admixture time of Xinjiang Kirgiz and its genetic relatedness to its counterpart in Kyrgyzstan

题目: Worldwide distribution of the DCDC2 READ1 regulatory element and its relationship with phoneme variation across languages


DCDC2 is a gene strongly associated with components of the phonological processing system in animal models and in multiple independent studies of populations and languages. We propose that it may also influence population-level variation in language component usage. To test this hypothesis, we investigated the evolution and worldwide distribution of the READ1 regulatory element within DCDC2, and compared its distribution with variation in different language properties. The mutational history of READ1 was estimated by examining primate and archaic hominin sequences. This identified duplication and expansion events, which created a large number of polymorphic alleles based on internal repeat units (RU1 and RU2). Association of READ1 alleles was studied with respect to the numbers of consonants and vowels for languages in 43 human populations distributed across five continents. Using population-based approaches with multivariate ANCOVA and linear mixed effects analyses, we found that the RU1-1 allele group of READ1 is significantly associated with the number of consonants within languages independent of genetic relatedness, geographic proximity, and language family. We propose that allelic variation in READ1 helped create a subtle cognitive bias that was amplified by cultural transmission, and ultimately shaped consonant use by different populations over time.

演讲人: 唐蝶

时间: 15:30 – 16:30, 2021年03月15日

地点: 315会议室, 生科大楼

题目: Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis


Genome-wide association studies (GWAS) have identified many risk loci for Alzheimer’s disease (AD), but how these loci confer AD risk is unclear. Here, we aimed to identify loci that confer AD risk through their effects on brain protein abundance to provide new insights into AD pathogenesis. To that end, we integrated AD GWAS results with human brain proteomes to perform a proteome-wide association study (PWAS) of AD, followed by Mendelian randomization and colocalization analysis. We identified 11 genes that are consistent with being causal in AD, acting via their cis-regulated brain protein abundance. Nine replicated in a confirmation PWAS and eight represent new AD risk genes not identified before by AD GWAS. Furthermore, we demonstrated that our results were independent of APOE e4. Together, our findings provide new insights into AD pathogenesis and promising targets for further mechanistic and therapeutic studies.

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