Joon‐Yong An
고려대학교 바이오시스템의과학부 · 생화학·유전·분자생물학
Joon-Yong An 교수의 연구실은 자폐성장애(Autism Spectrum Disorder, ASD)의 유전적 기반을 밝히는 데 초점을 맞추고 있으며, 전장 게놈 시퀀싱(WGS)과 외전게놈 시퀀싱(Exome sequencing)을 활용한 de novo 돌연변이 및 비코딩 영역의 기능적 영향 분석을 핵심 연구 방향으로 삼고 있습니다. 특히 프로모터 영역과 단백질 발현 조절에 영향을 미칠 수 있는 비코딩 돌연변이, 짧은 반복 서열(STR) 확장, 그리고 페로프토시스와 같은 세포사멸 경로와의 연관성 등 신경발달 장애의 복잡한 유전 구조를 규명하고자 합니다. 최근에는 국가적 게놈 프로젝트와 연계한 인구유전학적 연구도 병행하여 다인종적 유전적 배경을 고려한 ASD 유전 기반 분석을 진행하고 있습니다.
표시된 성과는 수집된 데이터 기준으로 산출되며, 일부 차이가 있을 수 있습니다.
Whole-genome sequencing (WGS) has facilitated the first genome-wide evaluations of the contribution of de novo noncoding mutations to complex disorders. Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD). In contrast to coding mutations, no noncoding functional annotation category, analyzed in isolation, was significantly associated wit
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Recently developed genomic technologies, including microarray and next-generation sequencing (NGS), have enabled researchers to genetic analyses aimed at identifying genetic variations associated with ASD and to elucidate the genetic architecture of the disorder. Large-scale microarray, exome sequencing analyses, and robust statistical methods have resulted in successful gene discovery and identifica
The hypothetical 'AXAS' gene network model that profiles functional patterns of heterogeneous DNA variants overrepresented in autism spectrum disorder (ASD), X-linked intellectual disability, attention deficit and hyperactivity disorder and schizophrenia was used in this current study to analyze whole exome sequencing data from an Australian ASD cohort. An optimized DNA variant filtering pipeline was used to identify loss-of-function DNA variations. Inherited variants from parents with a broader
Ferroptosis, first introduced as a new form of regulated cell death induced by erastin, is accompanied by the accumulation of iron and lipid peroxides, thus it can be inhibited either by iron chelators or by lipophilic antioxidants. In the past decade, multiple studies have introduced the potential importance of ferroptosis in many human diseases, including cancer and neurodegenerative diseases. In this review, we will discuss the genetic association of ferroptosis with neurological disorders an
Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in
Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.
Genomic sequencing holds great promise in elucidating the genetic causes of strabismus; further research with larger cohorts or other related approaches are warranted.
