#phenotype
Diverse autism mutations lead to different disease outcomes
People with autism have a wide range of symptoms, with no two people sharing the exact type and severity of behaviors. Now a large-scale analysis of hundreds of patients and nearly 1000 genes has started to uncover how diversity among traits can be traced to differences in patients’ genetic mutations. The study, conducted by researchers at Columbia University Medical Center, was published Dec. 22 in the journal Nature Neuroscience.
Autism researchers have identified hundreds of genes that, when mutated, likely increase the risk of developing autism spectrum disorder (ASD). Much of the variability among people with ASD is thought to stem from the diversity of underlying genetic changes, including the specific genes mutated and the severity of the mutation.
“If we can understand how different mutations lead to different features of ASD, we may be able to use patients’ genetic profiles to develop accurate diagnostic and prognostic tools and perhaps personalize treatment,” said senior author Dennis Vitkup, PhD, associate professor of systems biology and biomedical informatics at Columbia University’s College of Physicians & Surgeons.
Jonathan Chang, Sarah R Gilman, Andrew H Chiang, Stephan J Sanders, Dennis Vitkup. Genotype to phenotype relationships in autism spectrum disorders.Nature Neuroscience, 2014; DOI: 10.1038/nn.3907
My cover of the Textures song “Timeless”.
Song: Timeless
Band: Textures
Album: Phenotype (2016)
Country: Netherlands
Genre: Progressive Metal
Sequencing Celebrity Mice: New Study Compares Genetics of 14 Popular Mouse Models
In a new study published on March 9, 2022 in Cell Genomics, researchers at the University of California San Diego School of Medicine present a genome-wide map comparing the genetic makeup of 14 common strains of laboratory mice.
In the century since the C57BL mouse strain was first generated, it has become the most popular laboratory rodent for biomedical research. It functions as a sort of “default” mouse, and its genetic makeup is commonly used as a “neutral” backdrop for genetic modifications that model human diseases. The specific C57BL/6J strain from The Jackson Laboratory is currently the most commonly used inbred mouse, with a closely-related C57BL/10 strain widely used in fields, such as immunology. Many additional sub-strains have since been derived from both.
Given the prevalence of these mouse strains in biology research, a comprehensive understanding of their genetic similarities and differences is valuable to researchers, but until recently, such a resource did not exist.
A team led by Abraham Palmer, PhD, and Jonathan Sebat, PhD, professors at UC San Diego School of Medicine, has now identified 352,631 single nucleotide polymorphisms (SNPs), 109,096 small insertions and deletions (INDELs), 150,344 short tandem repeats (STRs), 3,425 structural variations (SVs) and 2,826 differentially expressed genes (DEGenes) among the different strains. Most of the SNPs were clustered into 28 short segments in the genome, indicating that these genetic differences are likely due to an early introgression of an unrelated mouse, rather than recent independent mutations.
The authors say these results can now be used to guide both forward genetic approaches (wherein scientists identify a phenotypic difference between mice and look for the genetic variation that caused it) and reverse approaches (wherein scientists first identify a genetic difference and then assess whether it produces a different phenotype). Either way, they urge researchers to be aware of the unique genetic profile of their strain of choice.
— Nicole Mlynaryk, Bigelow Science Communication Fellow
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