Fingerprints as a kind of skin pattern, the traditional view is that it is a gene product of skin development, however, a recent scientific research results show that fingerprints are gene products of limb development. In the early morning of Beijing time today (7th), the team of researchers Wang Sijia of the Shanghai Institute of Nutrition and Health of the Chinese Academy of Sciences, the team of Professor Denis Headon of the University of Edinburgh and the team of academician Jin Li of Fudan University released this latest research result in the first issue of Cell in 2022, entitled "Limb genes underlie." variation in human fingerprint patterns”）。
After 7 years, the research results for the first time found that the genes associated with fingerprints were significantly enriched in pathways related to limb development and formation, rather than skin development-related pathways, and it was clear that human limb development-related genes played a key role in the formation of fingerprint pattern phenotypes. This key finding provides an important theoretical basis for the study of the association between skin lines and other phenotypes of the human body, especially disease susceptibility, and is expected to become a classic example of analyzing the association between macroscopic and microscopic phenotypes.
Li Jinxi, postdoctoral fellow of the Institute of Human Phenotypes and School of Life Sciences of Fudan University, James Glover, Ph.D. of the University of Edinburgh, Zhang Haiguo, Professor of the School of Life Sciences of Fudan University, and Meifang Peng, Ph.D. of the School of Life Sciences of Fudan University, are the co-first authors of the paper. Sijia Wang, Professor Denis Headon and Professor Jin Li are co-corresponding authors of the paper.
Fingerprints, as a type of skin pattern, exist before we are born, form early in embryonic development, begin in the 3rd to 4th month of pregnancy, and end at the end of the exposed skin crest line in the 6th month. Because of its permanent stability and uniqueness, fingerprints are also known as "human identity cards".
Where genes are the fingerprint pattern phenotypics closely related, and what are the genetic mechanisms behind them? What value will be generated in the future? Starting from the localization of genetic variants related to fingerprint pattern phenotypes, the researchers conducted genome-wide association scans and multi-population meta-analysis for more than 23,000 individuals, from which 43 genetic loci associated with human fingerprint patterns were identified.
Li Jinxi introduced the skin pattern collection process
"We observed that these genes were significantly enriched in pathways related to limb development and formation, rather than in pathways related to skin development." The discovery of this feature delighted the team.
At the same time, through multi-phenotype association analysis, the study also found a close correlation between the proportion of fingerprint pattern and finger length, and the two shared the same genetic basis. For example, the longer the little finger is relatively long, the shorter the palm length, the more two-handed bucket patterns, while the longer the distal knuckles of the index finger (where the fingerprint is formed), the less the bucket pattern.
"This study provides a classic case study of human typology and fully demonstrates the great significance of human phenotypicomics for the future development of life sciences." Regarding the scientific significance and value of this research, Jin Li said so. He introduced, "Through research, for the first time, a strong association between fingerprint patterns and limb phenotypes has been found, and the mechanism of action behind the strong association lies in the formation of fingerprint patterns and the development of limbs are affected by the same gene, EVI1." This reflects the biological typical 'one-cause multi-potency', where 'one cause' is the limb development gene. ”
What is "one cause and many effects"? Wang Sijia explained: "There is a co-cause behind seemingly unrelated phenotypes, in this study, skin lines, finger lengths, etc., are related to genes related to limb development. In real life, a typical example is the relationship between drinking and blushing and cardiovascular disease susceptibility. ”
The "one cause and multiple effects" revealed in this study provide an important theoretical basis for the study of the association between skin lines and other phenotypes and diseases in the human body, and is expected to open up the connection and mechanism of macroscopic and microscopic phenotypes. "For example, the scientific community has found an association between different skin patterns and many congenital genetic disorders, such as that patients with Down syndrome may have features such as broken palms and arched spherical streaks of the thumbs of the feet." Wang Sijia introduced. In the future, the team will pay attention to more neglected seemingly "useless" phenotypes to carry out more research, it is understood that Wang Sijia's team is cooperating with medical institutions such as the Children's Hospital affiliated to Fudan University, hoping to apply the relevant research results to the early screening of neonatal congenital diseases as soon as possible to achieve early diagnosis and treatment.
Text, photo/ Guangzhou Daily, Xinhua city Reporter: Zhou Yufei Correspondent Zhao Tianrun Qi Xinru
Guangzhou Daily New Flower City Editor: Zhou Yufei
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