Limb development genes underlie variation in human fingerprint patterns.
Limb development genes underlie variation in human fingerprint patterns.
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肢体发育基因是人类指纹模式变异的基础
DOI：
10.1016/j.cell.2021.12.008
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发表时间：
2022-01-06
期刊：
影响因子：
64.5
通讯作者：
Wang S
中科院分区：
文献类型：
--
作者：
Li J;Glover JD;Zhang H;Peng M;Tan J;Mallick CB;Hou D;Yang Y;Wu S;Liu Y;Peng Q;Zheng SC;Crosse EI;Medvinsky A;Anderson RA;Brown H;Yuan Z;Zhou S;Xu Y;Kemp JP;Ho YYW;Loesch DZ;Wang L;Li Y;Tang S;Wu X;Walters RG;Lin K;Meng R;Lv J;Chernus JM;Neiswanger K;Feingold E;Evans DM;Medland SE;Martin NG;Weinberg SM;Marazita ML;Chen G;Chen Z;Zhou Y;Cheeseman M;Wang L;Jin L;Headon DJ;Wang S
指纹具有长期的实用和文化价值，但人们对指纹变异的机制知之甚少。通过对中国汉族人群的全基因组扫描，我们确定了18个与手指指纹类型相关的基因座，其中包括长时间被认为是中间三个手指之间存在“模式块”相关性的遗传基础。特别是，我们发现了EVI1附近的一个变异，它改变了调节活性，并确定了EVI1在小鼠皮肤纹饰中的作用。EVI1在人类发育过程中的动态表达支持其在塑造四肢和手指方面的作用，而不是直接影响皮肤图案。跨种族荟萃分析确定了43个与指纹相关的基因，附近的基因对一般肢体发育路径具有强烈的富集性。我们还发现，指纹模式与手的比例在基因上是相关的。综上所述，这些发现支持肢体发育基因在影响指纹模式结果方面的关键作用。Gwas发现了与指纹类型相关的变体，跨民族的基因高度丰富了肢体发育功能；Evi1通过调控肢体而不是皮肤的发育改变了小鼠的皮纹；指纹图谱与手和手指的比例在遗传上相关；在中国汉族人群中进行的全基因组关联扫描和跨种族的荟萃分析揭示了与特定指纹图案相关的遗传区域；对小鼠模型的功能研究证实了EVI1在肢体早期发育和脊纹图案中的作用。
Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized “pattern-block” correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for 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 for general limb development pathways. We 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. GWAS identifies variants associated with fingerprint type across all digits Fingerprint-associated genes are strongly enriched for limb development functions Evi1 alters dermatoglyphs in mice by modulating limb rather than skin development Fingerprint patterns are genetically correlated with hand and finger proportions Genome-wide association scans in Han Chinese individuals and a trans-ethnic meta-analysis reveal genetic regions that are associated with specific fingerprint patterning; functional studies in mouse models confirm a role of EVI1 in early limb development and ridge patterning.
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遗传对人体组织基因表达的影响。
影响因子：
64.8
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
通讯作者：
Montgomery SB
影响因子：
2.5
作者：
Chesterman, ES;Gainey, GD;Kern, MJ
通讯作者：
Kern, MJ
影响因子：
9.2
作者：
Choi, Shing Wan;O'Reilly, Paul F.
通讯作者：
O'Reilly, Paul F.
影响因子：
3
作者：
Rao R;Gornbein J;Afshar Y;Platt LD;DeVore GR;Krakow D
通讯作者：
Krakow D
影响因子：
64.8
作者：
Dickinson ME;Flenniken AM;Ji X;Teboul L;Wong MD;White JK;Meehan TF;Weninger WJ;Westerberg H;Adissu H;Baker CN;Bower L;Brown JM;Caddle LB;Chiani F;Clary D;Cleak J;Daly MJ;Denegre JM;Doe B;Dolan ME;Edie SM;Fuchs H;Gailus-Durner V;Galli A;Gambadoro A;Gallegos J;Guo S;Horner NR;Hsu CW;Johnson SJ;Kalaga S;Keith LC;Lanoue L;Lawson TN;Lek M;Mark M;Marschall S;Mason J;McElwee ML;Newbigging S;Nutter LM;Peterson KA;Ramirez-Solis R;Rowland DJ;Ryder E;Samocha KE;Seavitt JR;Selloum M;Szoke-Kovacs Z;Tamura M;Trainor AG;Tudose I;Wakana S;Warren J;Wendling O;West DB;Wong L;Yoshiki A;International Mouse Phenotyping Consortium;Jackson Laboratory;Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS);Charles River Laboratories;MRC Harwell;Toronto Centre for Phenogenomics;Wellcome Trust Sanger Institute;RIKEN BioResource Center;MacArthur DG;Tocchini-Valentini GP;Gao X;Flicek P;Bradley A;Skarnes WC;Justice MJ;Parkinson HE;Moore M;Wells S;Braun RE;Svenson KL;de Angelis MH;Herault Y;Mohun T;Mallon AM;Henkelman RM;Brown SD;Adams DJ;Lloyd KC;McKerlie C;Beaudet AL;Bućan M;Murray SA
通讯作者：
Murray SA