Fudan and Chinese Academy of Sciences team found that limb development-related genes play a key role in the formation of fingerprint patterns, published in the main journal of "Cell"

Fingerprints are concave and convex lines on the skin of fingers.
Because of their constancy and high heritability, they have become the most widely studied type of skin lines
.

How are our fingerprint patterns formed? Which genes play a dominant role? The biological mechanisms underlying the formation of phenotypes such as fingerprint patterns are still poorly understood

In order to solve the above mystery, researcher Wang Sijia's team from Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Professor Denis Headon 's team of University of Edinburgh, and Academician Jinli's team of Fudan University have carried out in-depth research on this topic in cooperation with more than ten domestic and foreign scientific research institutions.
The analysis has accurately quantified the fingerprint patterns of multi-ethnic groups.
After analyzing the relationship between millions of genetic loci and fingerprint patterns, it is pointed out that genes related to human limb development play a key role in the formation of fingerprint pattern phenotypes, which is expected to be a key factor in the formation of fingerprint pattern phenotypes.
The study provides new ideas for early identification and screening of specific diseases through dermatoglyphic phenotypes
.

On January 7, 2022, Beijing time, related research results were published in the first issue of Cell in 2022 under the title of "Limb development genes underlie variation in human fingerprint patterns" ("Limb development genes underlie variation in human fingerprint patterns").
( Cell ) main journal
.

Analyse the details and analyze the genetic structure of fingerprint patterns

Where is the fingerprint pattern phenotype closely related to which genes, and what are the genetic mechanisms behind it? Starting from locating genetic variants associated with fingerprint pattern phenotypes, the researchers conducted genome-wide association scans and multi-population meta-analyses in more than 23,000 individuals, and identified 43 genetic loci associated with human fingerprint patterns
.

"We observed that these genes were significantly enriched in pathways related to limb development and formation, but not in pathways related to skin development
.

" The team was delighted by the discovery of this feature

　　More than that, based on the experimental observations of mouse animal models and human embryonic tissues, the team found that in the series of processes from limb development to dermatoglyphic formation in human fetal tissues, it is the expression in the EVI1 gene that supports the role of the EVI1 gene in shaping limbs and fingers.
Mesenchymal cells during limb development, not epithelial cells during skin development
.

This is further consistent with the research conclusion: fingerprint-related genes affect the formation of fingerprint patterns by regulating limb development

　　Through multi-phenotypic association analysis, the study also found a close correlation between fingerprint pattern and finger length ratio, both of which share the same genetic basis
.

For example, the longer the little finger and the shorter the palm length, the more the double-handed pattern; and the longer the distal phalanx of the index finger (where the fingerprint is formed), the less the bucket-shaped pattern

　　Broad prospects to help identify potential disease risks

　　"Skin pattern phenotype is an important part of human appearance phenotype, and it is closely related to other human phenotypes and diseases
.

Through this study, we have revealed that a series of important genes related to limb development affect the formation of fingerprint patterns.

　　Following this line of thought, this study provides an important theoretical basis for the study of the relationship between skin lines and other human phenotypes and diseases.
It is expected to open up the connection and mechanism of macro- and micro-phenotypes, and make it possible to "know diseases by seeing hands".

.

"For example, the scientific community has discovered the association between different dermatoglyphic phenotypes and many congenital hereditary diseases, such as patients with Down syndrome may have features such as amputated palms and arched balls of the great toes

　　Paradigm innovation, showing the great significance of human phenomics innovation

　　"This achievement is a classic case of human phenotyping research, which well reflects the great scientific significance of human phenotyping as a new paradigm with innovative sources.
" Professor Jin Li commented
.

He pointed out that this time, based on the concept of "testing everything can be measured", the team from Fudan and the Chinese Academy of Sciences discovered for the first time that there is a strong correlation between fingerprint patterns and limb phenotypes through large-scale collection of relevant data and analysis and research.

　　The human phenotype is a collection of all biological characteristics of the human body
.

An important purpose of human phenotype research is to discover the association mechanism between gene-phenotype-environment and macro-micro phenotype, especially the "strong association" and the mechanism behind it

　　At present, the world's first "human phenotype navigation map" has been preliminarily drawn based on the cohort study of more than 800 people in Shanghai, each of whom measured nearly 30,000 phenotypes, through the concerted cooperation of Chinese scientists from different institutions.
, found more than 1.
5 million strong associations, of which 39% were cross-field strong associations, most of which were discovered for the first time in the scientific community
.
"This 'navigation map' has brought a lot of 'question marks' to our scientific community, waiting for our scientists to further study and decipher, which is also one of our next important tasks
.
" Jin Li said
.

　　Li Jinxi, a postdoctoral fellow at the Institute of Human Phenotyping and School of Life Sciences, Fudan University, James Glover, a Ph.
D.
, University of Edinburgh, Zhang Haiguo, a professor at the School of Life Sciences, Fudan University, and Peng Meifang, a Ph.
D.
Professor Headon and Academician Jin Li are the co-corresponding authors of the paper
.

　　Relevant work has been supported by the Strategic Pilot Science and Technology Project of the Chinese Academy of Sciences, the Shanghai Municipal Science and Technology Major Project "International Human Phenotyping Project (Phase I)", the National Key Research and Development Project, the National Natural Science Foundation of China, the China Postdoctoral Science Foundation Funding Project, and the National Science and Technology Foundation.
Sex Work Special, CAMS Medical Science Innovation Fund, National Natural Science Foundation of China Major Research Project, National Institute of Oral and Craniofacial Research, European Commission, Australian Research Council, Australian National Health and Medical Research Council, UK Medical Research Council, Wellcome Trust Fund, contract funding from Chinese and foreign units and projects such as the Hong Kong Kadoorie Charity Foundation, the Wellcome Trust, the British Heart Foundation, the British MRC and the British Cancer Research Center
.

　　

　　(The article is reproduced on the WeChat public account of "Human Phenotype Project")