In:
eLife, eLife Sciences Publications, Ltd, Vol. 6 ( 2017-09-12)
Abstract:
Diseases often run in families. These disease are frequently linked to changes in DNA that are passed down through generations. Close family members may share these disease-causing mutations; so may distant relatives who inherited the same mutation from a common ancestor long ago. Geneticists use a method called linkage mapping to trace a disease found in multiple members of a family over generations to genetic changes in a shared ancestor. This allows scientists to pinpoint the exact place in the genome the disease-causing mutation occurred. Using computer algorithms, scientists can apply the same technique to identify mutations that distant relatives inherited from a common ancestor. Belbin et al. used this computational technique to identify a mutation that may cause unusually short stature or bone and joint problems in up to 2% of people of Puerto Rican descent. In the experiments, the genomes of about 32,000 New Yorkers who have volunteered to participate in the BioMe Biobank and their health records were used to search for genetic changes linked to extremely short stature. The search revealed that people who inherited two copies of this mutation from their parents were likely to be extremely short or to have bone and joint problems. People who inherited one copy had an increased likelihood of joint or bone problems. This mutation affects a gene responsible for making a form of protein called collagen that is important for bone growth. The analysis suggests the mutation first arose in a Native American ancestor living in Puerto Rico around the time that European colonization began. The mutation had previously been linked to a disorder called Steel syndrome that was thought to be rare. Belbin et al. showed this condition is actually fairly common in people whose ancestors recently came from Puerto Rico, but may often go undiagnosed by their physicians. The experiments emphasize the importance of including diverse populations in genetic studies, as studies of people of predominantly European descent would likely have missed the link between this disease and mutation.
Type of Medium:
Online Resource
ISSN:
2050-084X
DOI:
10.7554/eLife.25060.001
DOI:
10.7554/eLife.25060.002
DOI:
10.7554/eLife.25060.003
DOI:
10.7554/eLife.25060.004
DOI:
10.7554/eLife.25060.005
DOI:
10.7554/eLife.25060.006
DOI:
10.7554/eLife.25060.007
DOI:
10.7554/eLife.25060.008
DOI:
10.7554/eLife.25060.009
DOI:
10.7554/eLife.25060.010
DOI:
10.7554/eLife.25060.011
DOI:
10.7554/eLife.25060.012
DOI:
10.7554/eLife.25060.013
DOI:
10.7554/eLife.25060.014
DOI:
10.7554/eLife.25060.015
DOI:
10.7554/eLife.25060.016
DOI:
10.7554/eLife.25060.017
DOI:
10.7554/eLife.25060.018
DOI:
10.7554/eLife.25060.019
DOI:
10.7554/eLife.25060.020
DOI:
10.7554/eLife.25060.021
DOI:
10.7554/eLife.25060.022
DOI:
10.7554/eLife.25060.023
DOI:
10.7554/eLife.25060.024
DOI:
10.7554/eLife.25060.025
DOI:
10.7554/eLife.25060.026
DOI:
10.7554/eLife.25060.027
Language:
English
Publisher:
eLife Sciences Publications, Ltd
Publication Date:
2017
detail.hit.zdb_id:
2687154-3
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