Proceedings of the Post-Genome Analysis for Musculoskeletal Biology Workshop

Harel I. The turquoise killifish. Nat Methods. 2022;19(10):1150–1. https://doi.org/10.1038/s41592-022-01631-y.

Article  CAS  PubMed  Google Scholar 

Nelson J, Grande T, Wilson M. Fishes of the World 5th ed. Wiley; 2016.

Astre G, Atlan T, Goshtchevsky U, Shapira K, Oron-Gottesman A, Levy T, et al. Sex-specific regulation of metabolic health and vertebrate lifespan by AMP biosynthesis. Biorxiv. 2022;227:749.

Google Scholar 

Lin J-R, Sin-Chan P, Napolioni V, Torres GG, Mitra J, Zhang Q, et al. Rare genetic coding variants associated with human longevity and protection against age-related diseases. Nature Aging. 2021;1(9):783–94. https://doi.org/10.1038/s43587-021-00108-5.

Article  Google Scholar 

Garcia-Martinez D, Campo Martin M, Gonzalez Martin A, Cambra-Moo O, Barash A, Bastir M. Reevaluation of ‘endocostal ossifications’ on the Kebara 2 Neanderthal ribs. J Hum Evol. 2018;122:33–7. https://doi.org/10.1016/j.jhevol.2018.04.011.

Article  PubMed  Google Scholar 

Been E, Gomez-Olivencia A, Shefi S, Soudack M, Bastir M, Barash A. Evolution of spinopelvic alignment in hominins. Anat Rec. 2017;300(5):900–11. https://doi.org/10.1002/ar.23559.

Article  Google Scholar 

Hutton CW. Generalised osteoarthritis: an evolutionary problem? Lancet. 1987;1(8548):1463–5. https://doi.org/10.1016/s0140-6736(87)92209-4.

Article  CAS  PubMed  Google Scholar 

Gruss LT, Schmitt D. The evolution of the human pelvis: changing adaptations to bipedalism, obstetrics and thermoregulation. Philos Trans R Soc Lond B Biol Sci. 2015;370(1663):20140063. https://doi.org/10.1098/rstb.2014.0063.

Article  PubMed  PubMed Central  Google Scholar 

Weaver TD, Hublin JJ. Neandertal birth canal shape and the evolution of human childbirth. Proc Natl Acad Sci U S A. 2009;106(20):8151–6. https://doi.org/10.1073/pnas.0812554106.

Article  PubMed  PubMed Central  Google Scholar 

Coaccioli S, Sarzi-Puttini P, Zis P, Rinonapoli G, Varrassi G. Osteoarthritis: new insight on its pathophysiology. J Clin Med. 2022;11(20). https://doi.org/10.3390/jcm11206013.

Bernotiene E, Bagdonas E, Kirdaite G, Bernotas P, Kalvaityte U, Uzieliene I, et al. Emerging technologies and platforms for the immunodetection of multiple biochemical markers in osteoarthritis research and therapy. Front Med. 2020;7:572977. https://doi.org/10.3389/fmed.2020.572977.

Article  Google Scholar 

Boer CG, Hatzikotoulas K, Southam L, Stefansdottir L, Zhang Y, Coutinho de Almeida R, et al. Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. Cell. 2021;184(18):4784-818 e17. https://doi.org/10.1016/j.cell.2021.07.038.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Elayyan J, Carmon I, Zecharyahu L, Batshon G, Maatuf YH, Reich E, et al. Lef1 ablation alleviates cartilage mineralization following posttraumatic osteoarthritis induction. Proc Natl Acad Sci U S A. 2022;119(21):e2116855119. https://doi.org/10.1073/pnas.2116855119.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kague E, Medina-Gomez C, Boyadjiev SA, Rivadeneira F. The genetic overlap between osteoporosis and craniosynostosis. Front Endocrinol. 2022;13:1020821. https://doi.org/10.3389/fendo.2022.1020821.

Article  Google Scholar 

• Hirsch N, Dahan I, D’Haene E, Avni M, Vergult S, Vidal-Garcia M, et al. HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations. Genome Res. 2022;32(7):1242–53. https://doi.org/10.1101/gr.276196.121. This paper provides an excellent example of how to move from variant to validation of function in a preclinical model.

Article  PubMed  PubMed Central  Google Scholar 

Alonso N, Ralston SH. Unveiling the mysteries of the genetics of osteoporosis. J Endocrinol Invest. 2014;37(10):925–34. https://doi.org/10.1007/s40618-014-0149-7.

Article  CAS  PubMed  Google Scholar 

Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, et al. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015;526(7571):112–7. https://doi.org/10.1038/nature14878.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morris JA, Kemp JP, Youlten SE, Laurent L, Logan JG, Chai RC, et al. An atlas of genetic influences on osteoporosis in humans and mice. Nat Genet. 2019;51(2):258–66. https://doi.org/10.1038/s41588-018-0302-x.

Article  CAS  PubMed  Google Scholar 

Jin H, Yoo HJ, Kim YA, Lee JH, Lee Y, Kwon SH, et al. Unveiling genetic variants for age-related sarcopenia by conducting a genome-wide association study on Korean cohorts. Sci Rep. 2022;12(1):3501. https://doi.org/10.1038/s41598-022-07567-9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo CL, Atkins JL, et al. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nat Commun. 2021;12(1):654. https://doi.org/10.1038/s41467-021-20918-w.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wu SE, Chen WL. A genome-wide association study identifies novel risk loci for sarcopenia in a Taiwanese population. J Inflamm Res. 2021;14:5969–80. https://doi.org/10.2147/JIR.S338724.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ben-Avraham D, Karasik D, Verghese J, Lunetta KL, Smith JA, Eicher JD, et al. The complex genetics of gait speed: genome-wide meta-analysis approach. Aging. 2017;9(1):209–46. https://doi.org/10.18632/aging.101151.

Article  PubMed  PubMed Central  Google Scholar 

Livshits G, Gao F, Malkin I, Needhamsen M, Xia Y, Yuan W, et al. Contribution of heritability and epigenetic factors to skeletal muscle mass variation in United Kingdom Twins. J Clin Endocrinol Metab. 2016;101(6):2450–9. https://doi.org/10.1210/jc.2016-1219.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tarabeih N, Kalinkovich A, Shalata A, Livshits G. Circulating levels of visceral adipose tissue-derived serine protease inhibitor (Vaspin) appear as a marker of musculoskeletal pain disability. Diagn. 2020;10(10):797. https://doi.org/10.3390/diagnostics10100797.

Article  CAS  Google Scholar 

Kasher M, Williams FMK,Freidin MB, Cherny SS, Malkin I, Livshits G et al. Insights into the pleiotropic relationships between chronic back pain and inflammation-related musculoskeletal conditions: rheumatoid arthritis and osteoporotic abnormalities. Pain. 2022https://doi.org/10.1097/j.pain.0000000000002728

FagundesBelchior G, Kirk B, Pereira da Silva EA, Duque G. Osteosarcopenia: beyond age-related muscle and bone loss. Eur Geriatr Med. 2020;11(5):715–24.

Article  Google Scholar 

• Kirk B, Miller S, Zanker J, Duque G. A clinical guide to the pathophysiology, diagnosis and treatment of osteosarcopenia. Maturitas. 2020;140:27–33. https://doi.org/10.1016/j.maturitas.2020.05.012. This paper is an excellent overview of both the clinical and basic research into osteosarcopenia and provides commentary on current practices for treatment of this condition.

Article  CAS  PubMed  Google Scholar 

Al Saedi A, Stupka N, Duque G. Pathogenesis of osteoporosis. Handb Exp Pharmacol. 2020;262:353–67. https://doi.org/10.1007/164_2020_358.

Article  CAS  PubMed  Google Scholar 

Kirk B, Feehan J, Lombardi G, Duque G. Muscle, bone, and fat crosstalk: the biological role of myokines, osteokines, and adipokines. Curr Osteoporos Rep. 2020;18(4):388–400. https://doi.org/10.1007/s11914-020-00599-y.

Article  PubMed  Google Scholar 

•• Phu S, Bani Hassan E, Vogrin S, Kirk B, Duque G. Effect of Denosumab on Falls, Muscle strength, and function in community-dwelling older adults. J Am Geriatr Soc. 2019;67(12):2660–1. https://doi.org/10.1111/jgs.16165. This paper provides direct evidence to show that osteoporosis medications have non-bone effects in the elderly. This work emphasizes the cross-talk between bone and muscle and suggests the pathological interplay between osteoporosis and sarcopenia.

Article  PubMed  Google Scholar 

Gatti DM, Svenson KL, Shabalin A, Wu LY, Valdar W, Simecek P, et al. Quantitative trait locus mapping methods for diversity outbred mice. G3 Genes|Genomes|Genetics. 2014;4(9):1623–33. https://doi.org/10.1534/g3.114.013748.

Article  PubMed  PubMed Central  Google Scholar 

•• Raphael-Mizrahi B, Attar-Namdar M, Chourasia M, Cascio MG, Shurki A, Tam J et al. Osteogenic growth peptide is a potent anti-inflammatory and bone preserving hormone via cannabinoid receptor type 2. Elife. 2022;11. https://doi.org/10.7554/eLife.65834. This paper shows how the circulating peptide OGP acts on the CB2 peptide to attenuate bone loss in the aging mouse skeleton. This paper is a tout de force example of the use of pre-clinical models in MSK biological study.

Raphael-Mizrahi B, Gabet Y. The cannabinoids effect on bone formation and bone healing. Curr Osteoporos Rep. 2020;18(5):433–8. https://doi.org/10.1007/s11914-020-00607-1.

Article  PubMed  Google Scholar 

Bab I, Gazit D, Chorev M, Muhlrad A, Shteyer A, Greenberg Z, et al. Histone H4-related osteogenic growth peptide (OGP): a novel circulating stimulator of osteoblastic activity. EMBO J. 1992;11(5):1867–73. https://doi.org/10.1002/j.1460-2075.1992.tb05238.x.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mesner LD, Calabrese GM, Al-Barghouthi B, Gatti DM, Sundberg JP, Churchill GA, et al. Mouse genome-wide association and systems genetics identifies Lhfp as a regulator of bone mass. PLoS Genet. 2019;15(5):1008123. https://doi.org/10.1371/journal.pgen.1008123.

Article  CAS  Google Scholar 

• Doolittle ML, Calabrese GM, Mesner LD, Godfrey DA, Maynard RD, Ackert-Bicknell CL, et al. Genetic analysis of osteoblast activity identifies Zbtb40 as a regulator of osteoblast activity and bone mass. PLoS Genet. 2020;16(6):e1008805. https://doi.org/10.1371/journal.pgen.1008805. This paper demonstrates the power of alternative models to the traditional genome-wide association approach for finding genes linked with disease-relevant phenotypes. One locus is followed up in both cell and mouse models.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Medina-Gomez C, Kemp JP, Dimou NL, Kreiner E, Chesi A, Zemel BS, et al. Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. Nat Commun. 2017;8(1):121. https://doi.org/10.1038/s41467-017-00108-3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, et al. NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. Orphanet J Rare Dis. 2022;17(1):440. https://doi.org/10.1186/s13023-022-02592-3.

Article  PubMed  PubMed Central  Google Scholar 

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