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Unraveling the Genetic Secrets of Upright Walking: Scientists Discover the Gene that Shaped Human Evolution

Introduction

Walking upright on two legs, known as bipedal locomotion, is a defining characteristic of humans that sets us apart from other primates. This unique ability not only freed our hands to wield tools but also played a pivotal role in our evolutionary history. In a groundbreaking study, scientists have now identified the gene responsible for this significant transition in our ancestors.

Human-evolution
Image by Alexa from Pixabay

The Significance of Bipedal Locomotion

Millions of years ago, when our primate ancestors transitioned to walking on two legs, it marked a momentous leap in our evolution. Bipedal locomotion allowed humans to:

  • Free two hands for tool usage, leading to technological advancements.
  • Gain an evolutionary advantage over other species.

Unveiling the Gene behind Upright Walking

The study, conducted by researchers at Columbia University, employed a combination of large-scale biobank data, machine learning, and genomics to pinpoint the gene responsible for the skeletal changes that enabled bipedal locomotion.

  1. The First Genome Map: Through a unique approach that combined deep learning and genome-wide association studies, the researchers created the first map of genome regions linked to the skeletal changes in primates, which paved the way for upright walking.
  2. Strong Natural Selection: The study revealed that the genes responsible for these skeletal changes were strongly supported by natural selection. This indicates that these genetic variants provided an adaptive advantage to early humans.
  3. Insights into Arthritis: Beyond the groundbreaking discovery, the research also yielded valuable insights into arthritis. The genetic variants and skeletal features associated with hip, knee, and back arthritis were identified, addressing major causes of adult disability in the United States.

The Research Methodology

To unravel the mysteries of human evolution and upright walking, the researchers followed a meticulous approach:

  1. Large-Scale X-ray Analysis: Over 30,000 full-body X-rays from the UK Biobank were analyzed by the research team.
  2. Deep Learning Algorithm: A deep learning algorithm was trained to standardize the X-rays, eliminate quality issues, and precisely measure various skeletal features.
  3. Genome Scanning: The human genome was scanned to identify chromosomal regions linked to 23 crucial skeletal measures, such as shoulder width, torso length, and tibia-to-femur angle.
  4. Genetic Associations: The analysis of the genome data unveiled 145 regions associated with genes responsible for skeletal development.
  5. Evolutionary Insights: The study found that many of these regions overlapped with “accelerated regions” of the human genome, indicating faster evolution compared to great apes.

Genomic Evidence of Transition

The research findings provide the first genomic evidence of selective pressure on genetic variants responsible for skeletal proportions. This selective pressure paved the way for the transition from knuckle-based walking to bipedal locomotion, a defining characteristic of human evolution.

As scientists continue to delve into the mysteries of our past, the discovery of the gene behind bipedal locomotion opens new doors to understanding the intricate pathways that shaped our species.


Frequently Asked Questions (FAQs)

Q1: What is bipedal locomotion?

Bipedal locomotion refers to the ability to walk on two legs, a unique characteristic that distinguishes humans from other primates.

Q2: What advantages did bipedal locomotion offer early humans?

Bipedal locomotion allowed early humans to free two hands for tool usage, leading to technological advancements, and gain an evolutionary advantage over other species.

Q3: How did the researchers identify the gene responsible for upright walking?

The researchers employed a combination of large-scale biobank data, machine learning, and genomics to create the first map of genome regions associated with skeletal changes in primates, revealing the gene responsible for bipedal locomotion.

Q4: What additional insights did the study provide?

In addition to the gene discovery, the study also identified genetic variants and skeletal features associated with hip, knee, and back arthritis, major causes of adult disability in the United States.

Q5: What does the discovery of the gene signify?

The discovery of the gene provides the first genomic evidence of selective pressure on genetic variants that enabled the transition from knuckle-based walking to bipedalism in early humans.

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