Author: our reporter Ren Pengyan Weiqi
"Guangming Daily" (04 edition on January 8, 2022)
【Technological frontier】
Shanghai, January 7th (Reporters Ren Peng, Yan Weiqi) How are the fingerprints of each of us formed?
A study suggests that genes involved in human limb development play a key role in the development of the fingerprint pattern phenotype.
The result was published in the first issue of Cell in 2022 under the title "Limb development genes constitute the basis for differences in human fingerprint patterns" in the early morning of January 7th, Beijing time.
This research was completed by the team of researcher Wang Sijia from Shanghai Institute of Nutrition and Health, 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, in cooperation with more than ten scientific research institutions at home and abroad.
The researchers began by locating genetic variants associated with fingerprint pattern phenotypes, and conducted genome-wide association scans and multi-population meta-analysis on more than 23,000 individuals, from which 43 genetic loci were identified that were associated with human fingerprint patterns.
"We observed that these genes were significantly enriched in the pathways related to limb development and formation, but not in the pathways related to skin development." The team found that the mutation site located in the 3q26.2 region adjacent to the EVI1 gene was compounded with the fingerprints of the three middle fingers The phenotypes are significantly correlated, which provides a phenotypic and genetic explanation for the "fingerprint module phenomenon" (the fingerprints of the middle three fingers are highly correlated) that were discovered in the early 20th century.
In experimental observations based on mouse animal models and human embryonic tissues, the team further verified this 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.
"The skin pattern phenotype is an important part of the human appearance phenotype, and it is closely related to other human phenotypes and diseases. Through this study, we have revealed a series of important genes related to limb development that affect the formation of fingerprint patterns. These genes It often plays a 'one-cause, multiple-effect' role in human development." Wang Sijia said, along 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, and the scientific community has already Discover the association between different dermatoglyphic phenotypes and congenital genetic disorders, such as severed palms and arcuate balls of the great toes in patients with Down syndrome.
At present, the research team is cooperating with medical institutions such as the Pediatric Hospital of Fudan University, hoping to apply the relevant results to the early screening of neonatal congenital diseases as soon as possible to achieve early diagnosis and early treatment.
"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." Co-corresponding author of the paper, academician of the Chinese Academy of Sciences, Fudan University University professor Jin Li said that Fudan University is working with domestic and foreign partners to vigorously promote the human phenotype science plan, which will eventually form a "navigation map" composed of various strong associations to provide guidance and direction for future life and health research. .