Human height and other characteristics benefit from large-scale gene duplication mutations

In the past decade, geneticists have studied how differences in DNA sequences between individuals affect disease risk and other characteristics, focusing on one type of variation: single-letter changes

Researchers from the Broad Institute of MIT, Harvard University, Brigham and Women’s Hospital, and Harvard Medical School found that genetic changes called variable number tandem repeats (VNTRs) are associated with nearly 24 Traits are closely related, including height, hair curls, and the risk of heart and kidney disease

The research team wanted to see some connections between VNTRs and personality, but was surprised to find that these connections were so close

The results of the study published in the journal Science have paved the way for a deeper understanding of how genetics affects human characteristics and diseases, as well as a new way for scientists to study large-scale gene duplication and mutation

VNTRs

In the past ten years, the role of larger genome changes such as VNTRs has been under investigation

To solve this problem, Loh's laboratory has developed new tools to analyze human exome sequencing data and examine potential VNTRs

The researchers found that five VNTRs are associated with multiple traits, and they usually show strong associations that have not been reported before

The research team also found that a VNTR in the ACAN gene encoding cartilage components is related to height

More discoveries

One limitation of this study is that the population in the UK Biobank is mostly of European descent

In addition, the 118 VNTRs studied by the researchers are located in the protein coding region of the genome

The team hopes that their work will inspire other researchers to study VNTRs more deeply

Original search: DOI: 10.