在多重自闭症家庭中共享的罕见遗传变异表明选择下的社会记忆基因
Kang Seon Lee1, Taeyeop Lee1,2,3,4, Mujun Kim5
1Department of Bio and Brain Engineering, KAIST, Daejeon, 34141, Republic of Korea.
Scientific reports
|January 3, 2025
概括
研究人员使用自闭症谱系障碍 (ASD) 家庭的全基因组测序确定了FRRS1L基因,该基因对社会记忆至关重要. 在FRRS1L中的干扰可能会导致在ASD中看到的社会障碍.
科学领域:
- 遗传学和基因组学 在
- 神经科学是一个神经科学.
- 进化生物学 进化生物学
背景情况:
- 自闭症谱系障碍 (ASD) 是一种常见的神经发育障碍.
- 基因组研究越来越多地涉及ASD病因学的罕见变异.
- 识别特定的基因及其功能对于理解ASD至关重要.
研究的目的:
- 在患有ASD的兄弟姐妹中识别具有共同罕见变异的基因.
- 验证候选基因FRRS1L在社会行为和进化中的功能.
- 探索FRRS1L在人类社会记忆中的进化作用.
主要方法:
- 866个多重家族的全基因组测序.
- 在患有自闭症的兄弟姐妹中识别共享的罕见变体 (SRV).
- CRISPR/Cas9基因编辑,种群遗传学和小鼠行为测试 (包括人性化小鼠).
主要成果:
- FRRS1L被确定为两个家族的候选基因,其中一个家族的社会行为受损.
- 一个家族变异降低了FRRS1L的调节,而一个人类固定站点提高了FRRS1L的调节.
- Frrs1l淘汰赛小鼠表现出受损的社会新奇性识别;人性化的小鼠表现出增强的社会记忆保留.
结论:
- FRRS1L在社会行为和记忆中起着重要作用.
- FRRS1L的破坏可能会导致ASD的社会障碍.
- FRRS1L的进化可能与增强的社会记忆有关,在人类中赋予了选择性优势.
相关概念视频
Autism Spectrum Disorder
58
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
58
Human Genetics
531
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
531
Genome-wide Association Studies-GWAS
12.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.4K
Pleiotropy
39.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.7K
Pedigree Analysis
83.9K
Overview
83.9K
Genetic Lingo
100.8K
Overview
100.8K


