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Galpern, E. A.

Publications and source records attributed to Galpern, E. A..

3 recordsLinked to original sources

Blending physics-based and inverse folding models to disentangle variant effects on stability and function

Protein sequences are constrained not only by the need to fold into stable structures, but also by specific functional requirements imposed by natural selection. Yet predictions of how amino-acid changes affect proteins typically collapse these constraints into a single scalar score. Quantitatively separating these effects at scale remains an open challenge, with direct relevance spanning protein design to understanding the molecular mechanisms of disease. Inverse-folding (IF) models have emerged as fast, unsupervised predictors of folding energy changes ({Delta}{Delta}G), but because they learn statistical correspondences between structure and sequence, they can conflate conservation driven by function with conservation driven by stability. Here, we show that blending IF models with a physics-based coarse-grained potential improves global correlation with experimental {Delta}{Delta}G and, crucially, reduces IF model bias at functional sites. Applying the best-performing blend together with an evolutionary language model, we decompose each variants evolutionary cost into folding energy and dark energy, the latter capturing functional constraints beyond folding stability. With this decomposition, and without the need for supervision, we find that disease gain-of-function variants show a distinct functional signature from loss-of-function variants. In particular, we identify oncogenic drivers as largely preserving stability while exhibiting high dark energy, as opposed to tumor suppressors which are predominantly destabilized, paving the way to a mechanistic understanding of driver mutations in cancer. Together, these results provide a scalable framework for accurate {Delta}{Delta}G prediction and mechanistic disentanglement of variant effects.

biophysics↗

Large Ankyrin repeat proteins are formed with similar and energetically favorable units

Ankyrin containing proteins are one of the most abundant repeat protein families present in all extant organisms. They are made with tandem copies of similar amino acid stretches that fold into elongated architectures. Here, we build and curated a dataset of 200 thousand proteins that contain 1,2 million Ankyrin regions and characterize the abundance, structure and energetics of the repetitive regions in natural proteins. We found that there is a continuous roughly exponential variety of array lengths with an exceptional frequency at 24 repeats. We describe that individual repeats are seldom interrupted with long insertions and accept few deletions, consistently with the know tertiary structures. We found that longer arrays are made up of repeats that are more similar to each other than shorter arrays, and display more favourable folding energy, hinting at their evolutionary origin. The array distributions show that there is a physical upper limit to the size of an array of Ankyrin repeats of about 120 copies, consistent with the limit found in nature. Analysis of the identity patterns within the arrays suggest that they may have originated by sequential copies of more than one Ankyrin unit. Author summaryRepeat proteins are coded in tandem copies of similar amino acid stretches. We built and curated a large dataset of Ankyrin containing proteins, one of the most abundant families of repeat proteins, and characterized the structure of the arrays formed by the repetitions. We found that large arrays are constructed with repetitions that are more similar to each other than shorter arrays. Also, the largest the array, the more energetically favourable its folding energy is. We speculate about the mechanistic origin of large arrays and hint into their evolutionary dynamics.

bioinformatics↗

Size and structure of the sequence space of repeat proteins

The coding space of protein sequences is shaped by evolutionary constraints set by requirements of function and stability. We show that the coding space of a given protein family --the total number of sequences in that family-- can be estimated using models of maximum entropy trained on multiple sequence alignments of naturally occuring amino acid sequences. We analyzed and calculated the size of three abundant repeat proteins families, whose members are large proteins made of many repetitions of conserved portions of [~]30 amino acids. While amino acid conservation at each position of the alignment explains most of the reduction of diversity relative to completely random sequences, we found that correlations between amino acid usage at different positions significantly impact that diversity. We quantified the impact of different types of correlations, functional and evolutionary, on sequence diversity. Analysis of the detailed structure of the coding space of the families revealed a rugged landscape, with many local energy minima of varying sizes with a hierarchical structure, reminiscent of fustrated energy landscapes of spin glass in physics. This clustered structure indicates a multiplicity of subtypes within each family, and suggests new strategies for protein design.

biophysics↗