Showing posts with label DNA Mutations. Show all posts
Showing posts with label DNA Mutations. Show all posts

Nov 9, 2023

Cracking the code: Genome sequencing reveals why songbirds are larger in colder climates

Scientists have unlocked the genetic basis underlying the remarkable variation in body size observed in song sparrows, one of North America's most familiar and beloved songbirds. This discovery also provides insights into this species' capacity to adapt to the challenges of climate change.

The study, published today in Nature Communications, used genomic sequencing to successfully pinpoint eight genetic variants, or DNA mutations, largely responsible for the nearly threefold difference in body size observed across the song sparrow range from Mexico to Alaska. For instance, song sparrows that live year-round in the Aleutian Islands can be up to three times larger than their counterparts in the coastal marshes of California.

Katherine Carbeck, the study's first author and a PhD candidate in the faculty of forestry, University of British Columbia, explains that body size varies predictably in many species that inhabit vastly different climatic conditions, aligning with "Bergmann's rule" which states that organisms in cooler climates tend to be larger as an adaptation to regulate body temperature.

"The existence of 'locally adapted' populations implies that natural selection has shaped the genetic makeup of song sparrow populations across their range, enabling individuals to survive and reproduce in drastically different climatic conditions," said Carbeck. "However, the genetic mechanisms underlying Bergmann's rule have remained elusive until now."

Whole-genome sequencing cracks the code

Carbeck and colleagues from the Cornell Lab of Ornithology, University of Alaska and Ouachita Baptist University used the power of whole-genome sequencing to decode the entire song sparrow genome and unlock its secrets.

They combed through genetic samples from the two largest song sparrow subspecies that live year-round in the Aleutian Islands, as well as two smaller subspecies: one that breeds in Alaska but migrates to warmer sites in winter, and one that lives year-round on the B.C. coast, where the Pacific Ocean maintains comparatively mild winter weather.

Their comparison of the larger and smaller-bodied subspecies revealed several candidate genes associated with body mass. By characterizing these candidates, they identified eight specific genetic variants closely linked to body mass -- aligning with Bergmann's rule.

Genetic diversity helps life adapt to climate change

The researchers suggest that revealing a genetic basis for Bergmann's rule helps us to understand how evolution, natural selection and climate have interacted throughout a species' history.

"Our results highlight the potential role habitat conservation plays in enabling the continued exchange of genes between populations -- which is important in the face of ongoing change," said Carbeck.

Dr. Jen Walsh, a study co-author and research associate at the Cornell Lab of Ornithology, added: "From a genomic perspective, identifying a small number of candidate genes with an apparently large impact on variation in body size is really interesting. The magnificent range of phenotypic diversity seen in song sparrows suggest they offer exciting opportunities to identify genes underlying a host of well-known and generally accepted eco-geographic rules."

Dr. Peter Arcese, a co-author and a professor in UBC's department of forest and conservation sciences, said the findings suggest a resilient future for these birds.

Read more at Science Daily

Jan 9, 2023

Study reveals average age at conception for men versus women over past 250,000 years

The length of a specific generation can tell us a lot about the biology and social organization of humans. Now, researchers at Indiana University can determine the average age that women and men had children throughout human evolutionary history with a new method they developed using DNA mutations.

The researchers said this work can help us understand the environmental challenges experienced by our ancestors and may also help us in predicting the effects of future environmental change on human societies.

"Through our research on modern humans, we noticed that we could predict the age at which people had children from the types of DNA mutations they left to their children," said study co-author Matthew Hahn, Distinguished Professor of biology in the College of Arts and Sciences and of computer science in the Luddy School of Informatics, Computing and Engineering at IU Bloomington. "We then applied this model to our human ancestors to determine what age our ancestors procreated."

According to the study, published today in Science Advances and co-authored by IU post-doctoral researcher Richard Wang, the average age that humans had children throughout the past 250,000 years is 26.9. Furthermore, fathers were consistently older, at 30.7 years on average, than mothers, at 23.2 years on average, but the age gap has shrunk in the past 5,000 years, with the study's most recent estimates of maternal age averaging 26.4 years. The shrinking gap seems to largely be due to mothers having children at older ages.

Other than the recent uptick in maternal age at childbirth, the researchers found that parental age has not increased steadily from the past and may have dipped around 10,000 years ago because of population growth coinciding with the rise of civilization.

"These mutations from the past accumulate with every generation and exist in humans today," Wang said. "We can now identify these mutations, see how they differ between male and female parents, and how they change as a function of parental age."

Children's DNA inherited from their parents contains roughly 25 to 75 new mutations, which allows scientists to compare the parents and offspring, and then to classify the kind of mutation that occurred. When looking at mutations in thousands of children, IU researchers noticed a pattern: The kinds of mutations that children get depend on the ages of the mother and the father.

Previous genetic approaches to determining historical generation times relied on the compounding effects of either recombination or mutation of modern human DNA sequence divergence from ancient samples. But the results were averaged across both males and females and across the past 40,000 to 45,000 years.

Hahn, Wang and their co-authors built a model that uses de novo mutations -- a genetic alteration that is present for the first time in one family member as a result of a variant or mutation in a germ cell of one of the parents or that arises in the fertilized egg during early embryogenesis -- to separately estimate the male and female generation times at many different points throughout the past 250,000 years.

The researchers were not originally seeking to understand the relationship of gender and age at conception over time; they were conducting a broader investigation about the number of mutations passed from parents to children. They only noticed the age-based mutation patterns while seeking to understand differences and similarities between these pattens in humans versus other mammals, such as cats, bears and macaques.

"The story of human history is pieced together from a diverse set of sources: written records, archaeological findings, fossils, etc.," Wang said. "Our genomes, the DNA found in every one of our cells, offer a kind of manuscript of human evolutionary history. The findings from our genetic analysis confirm some things we knew from other sources (such as the recent rise in parental age), but also offer a richer understanding of the demography of ancient humans. These findings contribute to a better understanding of our shared history."

Read more at Science Daily