c2e552afa0d0574db2c2d93b51cd87b6484c4ddb jnavarr5 Fri Jun 13 15:59:17 2025 -0700 Adding links to the papers mentioned in the description for each track, refs #35703 diff --git src/hg/makeDb/trackDb/human/hg38/unusualcons.html src/hg/makeDb/trackDb/human/hg38/unusualcons.html index 746e69e7aba..0f7814454e3 100644 --- src/hg/makeDb/trackDb/human/hg38/unusualcons.html +++ src/hg/makeDb/trackDb/human/hg38/unusualcons.html @@ -1,224 +1,239 @@

Description

These tracks show regions of unusual conservation in human relative to other organisms:

Track Count Coverage in bp
Ultraconserved 481 126,007
UCNEBase Chicken 4351 1,415,142
UCNEBase Paralogs 987 215,800
UCNEBase UGRBs 239 199,269,634
Zoo Ultracons. 4552 131,661
HARs 2647 681,420
ZooHARs 312 49,173
HAQERs 1580 1,410,669
Long hCondels 583 293,809
Short hCondels 10,032 1,968,123
Zoo ROCCs 595,536 26,995,284
Zoo UNICORNs 423,586 16,155,520

Display Conventions and Configuration

All tracks show the locations and name for the features. Only one, Short hCondels, has MPRA test results in the track itself.

Methods

Ultraconserved sequences: downloaded from our hg19 public track hub and lifted to hg38.

HARs: Downloaded from https://docpollard.org/research/. Converted from Excel. Lifted 2649 HAR file to hg38.

HAQERs: Converted from supplemental table 1 of (Mangan et al, Cell 2023).

Long hCondels from McLean: Excel file converted manually as supplement 2 from https://pmc.ncbi.nlm.nih.gov/articles/PMC3071156/ and lifted to hg38 from hg18.

Short hCondels from Xue et al: Excel file converted manually from supplemental file 1. From the paper: "We constructed a chimpanzee-anchored multiple sequence alignment across 11 vertebrate species to detect statistically significant conserved sequences (1,371,766). These elements ranged from being deeply conserved throughout vertebrates to being conserved only through primates. We then intersected our conserved elements with called deletions (2,042,706) between the human (hg38) and chimpanzee (panTro4) genomes to yield 43,588 putative hCONDELs."

Zoonomia UNICORNs, ZooUCEs and RoCCs: Downloaded from https://cgl.gi.ucsc.edu/data/cactus/zoonomia-2021-track-hub/hg38/

Credits

Thanks to Katie Pollard, Hiram Clawson, James Xue, Matt Christmas (matthew.christmas@imbim.uu.se), and Mark Diekhans for providing the data.

References

Bejerano G, Pheasant M, Makunin I, Stephen S, Kent WJ, Mattick JS, Haussler D. Ultraconserved elements in the human genome. Science. 2004 May 28;304(5675):1321-5. PMID: 15131266

Pollard KS, Salama SR, Lambert N, Lambot MA, Coppens S, Pedersen JS, Katzman S, King B, Onodera C, Siepel A et al. An RNA gene expressed during cortical development evolved rapidly in humans. Nature. 2006 Sep 14;443(7108):167-72. PMID: 16915236

Capra JA, Erwin GD, McKinsey G, Rubenstein JL, Pollard KS. Many human accelerated regions are developmental enhancers. Philos Trans R Soc Lond B Biol Sci. 2013 Dec 19;368(1632):20130025. PMID: 24218637; PMC: PMC3826498

Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E et al. Three-dimensional genome rewiring in loci with human accelerated regions. Science. 2023 Apr 28;380(6643):eabm1696. PMID: 37104607; PMC: PMC10999243

Mangan RJ, Alsina FC, Mosti F, Sotelo-Fonseca JE, Snellings DA, Au EH, Carvalho J, Sathyan L, Johnson GD, Reddy TE et al. Adaptive sequence divergence forged new neurodevelopmental enhancers in humans. Cell. 2022 Nov 23;185(24):4587-4603.e23. PMID: 36423581; PMC: PMC10013929

McLean CY, Reno PL, Pollen AA, Bassan AI, Capellini TD, Guenther C, Indjeian VB, Lim X, Menke DB, Schaar BT et al. Human-specific loss of regulatory DNA and the evolution of human-specific traits. Nature. 2011 Mar 10;471(7337):216-9. PMID: 21390129; PMC: PMC3071156

Xue JR, Mackay-Smith A, Mouri K, Garcia MF, Dong MX, Akers JF, Noble M, Li X, Zoonomia Consortium†, Lindblad-Toh K et al. The functional and evolutionary impacts of human-specific deletions in conserved elements. Science. 2023 Apr 28;380(6643):eabn2253. PMID: 37104592; PMC: PMC10202372

Dimitrieva S, Bucher P. UCNEbase--a database of ultraconserved non-coding elements and genomic regulatory blocks. Nucleic Acids Res. 2013 Jan;41(Database issue):D101-9. PMID: 23193254; PMC: PMC3531063