Suzanne de Bruijn
188 Chapter 4 30. Sudmant, P.H., Rausch, T., Gardner, E.J., Handsaker, R.E., Abyzov, A., Huddleston, J. et al. An integrated map of structural variation in 2,504 human genomes. Nature 526 , 75-81 (2015). 31. Karczewski, K.J., Francioli, L.C., Tiao, G., Cummings, B.B., Alföldi, J., Wang, Q. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581 , 434-443 (2020). 32. MacDonald, J.R., Ziman, R., Yuen, R.K.C., Feuk, L. & Scherer, S.W. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Research 42 , D986-D992 (2014). 33. Lohan, S., Spielmann, M., Doelken, S.C., Flöttmann, R., Muhammad, F., Baig, S.M. et al. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics 86 , 318-325 (2014). 34. Ngcungcu, T., Oti, M., Sitek, J.C., Haukanes, B.I., Linghu, B., Bruccoleri, R. et al. Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. American Journal of Human Genetics 100 , 737-750 (2017). 35. Gu, S.,Yuan, B., Campbell, I.M., Beck, C.R., Carvalho, C.M.B., Nagamani, S.C.S. et al. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Human Molecular Genetics 24 , 4061-4077 (2015). 36. Zhang, F., Khajavi, M., Connolly, A.M., Towne, C.F., Batish, S.D. & Lupski, J.R. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nature Genetics 41 , 849 (2009). 37. Lupski, J.R. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends in Genetics 14 , 417-422 (1998). 38. Lieber, M.R. The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway. Annual Review of Biochemistry 79 , 181-211 (2010). 39. Ohshima, N., Kudo, T., Yamashita, Y., Mariggiò, S., Araki, M., Honda, A. et al. New members of themammalian glycerophosphodiester phosphodiesterase family: GDE4 and GDE7 produce lysophosphatidic acid by lysophospholipase D activity. Journal of Biological Chemistry 290 , 4260-4271 (2015). 40. Tsuboi, K., Okamoto, Y., Rahman, I.A.S., Uyama, T., Inoue, T., Tokumura, A. et al. Glycerophosphodiesterase GDE4 as a novel lysophospholipase D: a possible involvement in bioactive N-acylethanolamine biosynthesis. Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids 1851 , 537-548 (2015). 41. Friedman, J.S., Chang, B., Krauth, D.S., Lopez, I., Waseem, N.H., Hurd, R.E. et al. Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proceedings of the National Academy of Sciences of the United States of America 107 , 15523-15528 (2010). 42. Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H. et al. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications 6 , 5614-5614 (2015).
Made with FlippingBook
RkJQdWJsaXNoZXIy ODAyMDc0