摘要
肤纹具有长期的实用性和文化性,且与身俱来,但人们对其变化背后的机制知之甚少。通过对中国汉族人群的全基因组扫描,该团队发现了18个与指纹类型相关的基因座,包括长期以来被认为的中间三枚手指指纹花纹之间的“模式块”相关性的遗传基础。值得注意的是,该团队发现了EVI1基因附近的一个变异,它可以改变对EVI1基因表达的调节活性,并证实了Evi1在小鼠脊线模式中的重要作用。在人类发育过程中,EVI1的动态表达支持其在塑造四肢和手指方面发挥作用,而不是直接影响皮肤模式。多群体的荟萃分析鉴定了43个与指纹相关的位点,基因显著富集在肢体发育通路中。此外,指纹花纹与手的比例存在基因上的关联。综上所述,这些发现支持了肢体发育基因在影响指纹花纹形成中起关键作用。
Fingerprints are of longstanding practical and cultural interest,but little is known about the mechanisms that underlie their variation.Using genome-wide scans in Han Chinese cohorts,this study identified 18 loci associated with fingerprint type across the digits,including a genetic basis for the long-recognized“patternblock”correlations among the middle three digits.In particular,it identified a variant near EVI1 that alters regulatory activity and established a role for EVI1/Evi1 in dermatoglyph patterning in mice.Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits,rather than influencing skin patterning directly.Trans-ethnic meta-analysis identified 43 fingerprint-associated loci,with nearby genes being strongly enriched in general limb development pathways.This study also found that fingerprint patterns were genetically correlated with hand proportions.Taken together,these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning.
作者
李金喜
张海国
金力
汪思佳
LI Jinxi;ZHANG Haiguo;JIN Li;WANG Sijia(State Key Laboratory of Genetic Engineering,Collaborative Innovation Center for Genetics and Development,School of Life Sciences,and Human Phenome Institute,Fudan University,Shanghai 200438,China;CAS Key Laboratory of Computational Biology,Shanghai Institute of Nutrition and Health,University of Chinese Academy of Sciences,Chinese Academy of Sciences,Shanghai 200031,China;Ministry of Education Key Laboratory of Contemporary Anthropology,Department of Anthropology and Human Genetics,School of Life Sciences,Fudan University,Shanghai 200438,China;School of Basic Medicine,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China)
出处
《中国细胞生物学学报》
CAS
CSCD
2022年第7期1229-1237,共9页
Chinese Journal of Cell Biology
基金
中国科学院战略性先导科技专项(批准号:XDB38020400)
上海市科学技术委员会、中国科学技术部、上海市科技重大专项“国际人类表型组计划(一期)”(批准号:2017SHZDZX01)
国家重点研发项目(批准号:2018YFC0910403)
国家自然科学基金(批准号:31521003、81622003、81373082、31771325)
中国博士后科学基金资助项目(批准号:2019M651351)
国家科技基础研究项目(批准号:2015FY111700)
CAMS医学科学创新基金(批准号:2019-I2M-5-066)
“111”计划(批准号:B13016)
国家自然科学基金重大研究项目(批准号:91731303)资助的课题。
关键词
指纹花纹
遗传
全基因组关联分析
多群体荟萃分析
肢体发育
EVI1
fingerprint pattern
genetics
Genome-Wide Association Study
trans-ethnic meta-analysis
limb development
EVI1
