Mendel Kurallarından Sapmalar
Referanslar
Strome S, Bhalla N, Kamakaka R, et al. Clarifying Mendelian vs non-Mendelian inheritance. Genetics, 2024; 227 (3): 1-7. https://doi.org/10.1093/genetics/iyae078
Harel T, Pehlivan D, Caskey CT, et al. Mendelian, non-Mendelian, multigenic inheritance, and epigenetics. In: Rosenberg NR, Pascual JM (eds) Rosenberg's molecular and genetic basis of neurological and psychiatric disease (Fifth edition). Amsterdam:Elsevier; 2015. p. 3-27
Barton NH, Keightley PD. Understanding quantitative genetic variation. Nature Reviews Genetics, 2002; 3(1): 11-21. https://doi.org/10.1038/nrg700
Di C, Lohmueller KE. Revisiting dominance in population genetics. Genome Biology and Evolution, 2024; 16(8): evae147. https://doi.org/10.1093/gbe/evae147.
Perry GH, Xue Y, Smith RS, et al. Evolutionary genetics of the human Rh blood group system. Human Genetics, 2012; 131: 1205-1216. https://doi.org/10.1007/s00439-012-1147-5
Domingo J, Baeza-Centurion P, Lehner B. The causes and consequences of genetic interactions (epistasis). Annual Review of Genomics and Human Genetics, 2019; 20(1): 433-460. https://doi.org/10.1146/annurev-genom-083118-014857
Van Heyningen V, Yeyati PL. Mechanisms of non-Mendelian inheritance in genetic disease. Human Molecular Genetics, 2004; 13(suppl2): 225-233. https://doi.org/10.1093/hmg/ddh254
Harris H. Multiple alelism and isozyme diversity in human populations. In: Markert, CL (ed.) Isozymes 4 Genetics and Evolution. New York: Academic Press; 2012. p: 131-147.
Birky Jr CW. Relaxed and stringent genomes: why cytoplasmic genes don't obey Mendel's laws. Journal of Heredity, 1994; 85(5): 355-365. https://doi.org/10.1093/oxfordjournals.jhered.a111480
Hartwell LH, Hood L, Goldberg ML, et al. Genetics: From Genes to Genomes (6th ed.). New York: McGraw-Hill Education; 2018.
Motulsky AG. Formal Genetics of Humans: Modes of Inheritance. In:Speicher MR, Antonaraki SE, Motulsky AG (eds.) Vogel and Motulsky's Human Genetics (Fourth edition). Berlin: Springer. 2010; p. 165-209.
Strachan T, Read AP. Human Molecular Genetics (5th ed.). New York: Garland Science; 2019.
Cook L. Genetics and Biotechnology. Essex: ED-TECH press, 2019.
Griffiths AJF, Doebley J, Peichel C, et al. Introduction to genetic analysis (12th ed.). USA: Macmillan Higher Education; 2020.
Hartl DL, Jones EW. Genetics: Analysis of Genes and Genomes. Sudbury: Jones & Bartlett Publishers, 2009.
Klug WS, Cummings MR, Spencer CA, et al. Concepts of Genetics (12th ed.). Essex: Pearson Global Edition; 2019.
Freeman S, Quillin K, Allison LA, et al. Biological science (7th ed). Londra: Pearson Education; 2021.
Crow JF. Dominance and overdominance. Genetics and exploitation of heterosis in crops, 1999; 49-58. https://doi.org/10.2134/1999.geneticsandexploitation.c5
Birchler JA, Yao H, Chudalayandi S, et al. Heterosis. The Plant Cell, 2010; 22 (7): 2105-2112. https://doi.org/10.1105/tpc.110.076133
Williams TN, Thein SL. Sickle cell anemia and its phenotypes. Annual Review of Genomics and Human Genetics, 2018;19 (1): 113-147. https://doi.org/10.1146/annurev-genom-083117-021320
Paaby AB, Rockman MV. The many faces of pleiotropy. Trends in Genetics, 2013; 29 (2): 66-73. https://doi.org/10.1016/j.tig.2012.10.010. Epub 2012 Nov 7.
Stearns FW. One hundred years of pleiotropy: a retrospective. Genetics, 2010; 186 (3): 767-773. https://doi.org/10.1534/genetics.110.122549
Solovieff N, Cotsapas C, Lee PH, et al. Pleiotropy in complex traits: challenges and strategies. Nature Reviews Genetics, 2013; 14 (7): 483-495. https://doi.org/10.1038/nrg3461
Zlotogora, J. Penetrance and expressivity in the molecular age. Genetics in Medicine, 2003; 5 (5): 347-352. https://doi.org/10.1097/01.gim.0000086478.87623.69
Venkitaraman AR. Cancer suppression by the chromosome custodians, BRCA1 and BRCA2. Science. 2014; 343(6178): 1470-1475. https://doi.org/10.1126/science.1252230
Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Molecular Genetics and Metabolism, 2019; 128 (3): 320-331. https://doi.org/10.1016/j.ymgme.2018.11.012
Masterman T, Hillert J. Genetics: Susceptibility and expressivity. In: Masterman T, Hillert J (eds.) Handbook of multiple sclerosis. Florida: CRC Press. 2006; p. 67-90
Spofford JB. The relation between expressivity and selection against eyeless in Drosophila melanogaster. Genetics, 1956; 41 (6): 938. https://doi.org/10.1093/genetics/41.6.938
Kingdom R, Wright CF. Incomplete penetrance and variable expressivity: from clinical studies to population cohorts. Frontiers in Genetics, 2022; 13: 920390. https://doi.org/10.3389/fgene.2022.920390
Cordell HJ. Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans. Human Molecular Genetics, 2002; 11 (20): 2463-2468. https://doi.org/10.1093/hmg/11.20.2463
Moore JH. A global view of epistasis. Nature Genetics, 2005; 37 (1):13-14. https://doi.org/10.1038/ng0105-13
De Visser JAG, Cooper TF, Elena SF. The causes of epistasis. Proceedings of the Royal Society B: Biological Sciences, 2011; 278 (1725): 3617-3624. https://doi.org/10.1098/rspb.2011.1537
Moore JH, Williams SM. Epistasis and its implications for personal genetics. The American Journal of Human Genetics, 2009; 85 (3): 309-320. https://doi.org/10.1016/j.ajhg.2009.08.006
Mogensen HL. The hows and whys of cytoplasmic inheritance in seed plants. American Journal of Botany, 1996; 83 (3): 383-404. https://doi.org/10.1002/j.1537-2197.1996.tb12718.x
Birky CW. The inheritance of genes in mitochondria and chloroplasts: laws, mechanisms, and models. Annual Review of Genetics, 2001; 35: 125-148. https://doi.org/10.1146/annurev.genet.35.102401.090231
Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics, 2005; 6 (5):389-402. https://doi.org/10.1038/nrg1606
Avise JC. Molecular Markers, Natural History, and Evolution. New York: Springer; 2004
Bendich AJ. Mitochondrial DNA, chloroplast DNA and the origins of development in eukaryotic organisms. Biology Direct, 2010; 5: 1-8. https://doi.org/10.1186/1745-6150-5-42.
Adrian-Kalchhauser I, Sultan SE, Shama LN, et al. Understanding 'non-genetic' inheritance: insights from molecular-evolutionary crosstalk. Trends in Ecology & Evolution, 2020; 35 (12): 1078-1089. https://doi.org/10.1016/j.tree.2020.08.011
Wallace DC. Mitochondrial diseases in man and mouse. Science, 1999; 283 (5407):1482-8. https://doi.org/10.1126/science.283.5407.1482
Giles RE, Blanc H, Cann HM et al. Maternal inheritance of human mitochondrial DNA. Proceedings of the National Academy of Sciences, 1980; 77(11): 6715-6719. https://doi.org/10.1073/pnas.77.11.6715
Şoroğlu CV, Berkay EG, Vural B. Mitokondriyal DNA, Anaerkil kalıtım ve insan. Journal of Biotechnology and Strategic Health Research, 2020; 4(1): 1-7. https://doi.org/10.26650/JARHS2021-783621
Basse CW. Mitochondrial inheritance in fungi. Current Opinion in Microbiology, 2010; 13 (6): 712-719. https://doi.org/10.1016/j.mib.2010.09.003
DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Archives of Neurology, 1993; 50 (11): 1197-1208. https://doi.org/10.1001/archneur.1993.00540110075008.
Alshial EE, Abdulghaney MI, Wadan AHS. Mitochondrial dysfunction and neurological disorders: a narrative review and treatment overview. Life Sciences, 2023; 334:122257. https://doi.org/10.1016/j.lfs.2023.122257
Pakendorf B, Stoneking M. Mitochondrial DNA and human evolution. Annual Review of Genomics and Human Genetics, 2005; 6: 165-183. https://doi.org/10.1146/annurev.genom.6.080604.162249
Sugiura M. The chloroplast genome. Plant Molecular Biology, 1992; 19: 149-168. . https://doi.org/10.1007/BF00015612.
Wicke S, Schneeweiss GM, dePamphilis CW. The evolution of the plastid chromosome in land plants: gene content, gene order, gene function. Plant Molecular Biology, 2011; 76: 273–297. https://doi.org/10.1007/s11103-011-9762-4
Daniell H, Lin CS, Yu M, et al. Chloroplast genomes: diversity, evolution, and applications in genetic engineering. Genome Biology, 2016; 17: 134. https://doi.org/10.1186/s13059-016-1004-2
Jansen RK, Cai Z, Raubeson LA, et al. Analysis of 81 genes from 64 plastid genomes resolves relationships in angiosperms and identifies genome-scale evolutionary patterns. Proceedings of the National Academy of Sciences, 2007; 104 (49): 19369-19374. https://doi.org/10.1073/pnas.0709121104.
Ferguson-Smith AC. Genomic imprinting: the emergence of an epigenetic paradigm. Nature Reviews Genetics, 2011; 12(8): 565-575. https://doi.org/10.1038/nrg3032
Aronica L, Fessler SN, Stone Rydbom E, et al. Perinatal nutrition as a key regulator of genomic imprinting: a new paradigm for maternal-child health. Frontiers in Nutrition, 2025; 12: 1681847. https://doi.org/10.3389/fnut.2025.1681847
Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harbor Perspectives in Biology, 2011; 3(7): a002592. https://doi.org/10.1101/cshperspect.a002592
Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nature Reviews Genetics, 2001; 2(1): 21-32. https://doi.org/10.1038/35047554
Edwards CA, Ferguson-Smith AC. Mechanisms regulating imprinted genes in clusters. Current Opinion in Cell Biology, 2007; 19(3): 281-289. https://doi.org/10.1016/j.ceb.2007.04.013
John RM, Higgs, MJ, Isles AR. Imprinted genes and the manipulation of parenting in mammals. Nature Reviews Genetics, 2023; 24(11): 783-796. https://doi.org/10.1038/s41576-023-00644-3
Feinberg AP, Ohlsson R, Henikoff S. The epigenetic progenitor origin of human cancer. Nature Reviews Genetics, 2006; 7(1): 21-33. https://doi.org/10.1038/nrg1748
Yang X, Smith SL, Tian XC, et al. Nuclear reprogramming of cloned embryos and its implications for therapeutic cloning. Nature Genetics, 2007; 39(3): 295-302. https://doi.org/10.1038/ng1973
Falconer DS, Mackay TFC. Introduction to Quantitative Genetics. London: Longman; 1996.
Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends in Genetics, 2004; 20 (8): 327-332. https://doi.org/10.1016/j.tig.2004.06.010
Lynch M, Walsh B. Genetics and Analysis of Quantitative Traits. Massachusetts: Oxford University Press; 1998.
Visscher PM, Wray NR, Zhang Q, et al. 10 years of GWAS discovery: biology, function, and translation. The American Journal of Human Genetics, 2017; 101(1): 5-22. https://doi.org/10.1016/j.ajhg.2017.06.005
Snustad DP, Simmons MJ. Principles of genetics. New York: Wiley; 2015.
Charlesworth D, Charlesworth B, Marais G. Steps in the evolution of heteromorphic sex chromosomes. Heredity, 2005; 95 (2): 118-128. . https://doi.org/10.1038/sj.hdy.6800697
Doudna JA, Charpentier E. The new frontier of genome engineering with CRISPR-Cas9. Science, 2014; 346: 1258096. https://doi.org/10.1126/science.1258096