Bibliography

Attanasio C. et al. (2013) Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers. Science 342: 441-448.

Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN. (1997) Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. J Clin Invest. 99(8):1917-25. doi: 10.1172/JCI119359.

Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. (2013) 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 163(4):1085-94. doi: 10.1016/j.jpeds.2013.05.037. Epub 2013 Jun 27.

Britten RJ. (2010) Transposable element insertions have strongly affected human evolution. Proc Natl Acad Sci USA: 107(46):19945-8. doi: 10.1073/pnas.1014330107.

Cabrera VM, Marrero P, Abu-Amero KK, Larruga JM. (2018). Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago. BMC evolutionary biology18(1), 98. https://doi.org/10.1186/s12862-018-1211-4

Calzone KA, Cashion A, Feetham S, Jenkins J, Prows CA, Williams JK, Wung SF. (2010) Nurses transforming health care using genetics and genomics. Nurs Outlook. 58(1): 26-35. doi: 10.1016/j.outlook.2009.05.001

Chen Y. et al. (2018) A single nucleotide incorporation step limits human telomerase repeat addition activity. The EMBO Journal 37: e97953, DOI 10.15252/embj.201797953.

Crick F. (1970) Central Dogma of Molecular Biology. Nature 227: 561-563.

Darwin, C. & Wallace, A. R. (1858) On the tendency of species for form varieties; and on the perpetuation of varieties and species by natural means of selection. Proceedings of the Linnean Society of London 3, 45–62.

Dobzhansky Th. 1937. Genetics and the Origin of Species. Columbia University Press, New York.

Dobzhansky, Th. (1973) Nothing in Biology Makes Sense Except in the Light of Evolution. American Biology Teacher 35 (3): 125–129.

Eiberg, H. et al. (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Human Genetics, 2008; 123 (2): 177, DOI: 10.1007/s00439-007-0460-x

Eisensmith, R. and S. Woo (1992) Molecular Basis of Phenylketonuria and Related Hyperphenylalaninemias: Mutations and Polymorphisms in the Human Phenylalanine Hydroxylase Gene. Human Mutation 1: 13-23.

El-Attar LM, Bahashwan AA, Bakhsh AD, Moshrif YM. (2021) The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia. Intractable Rare Dis Res. 10(2):81-87. doi: 10.5582/irdr.2021.01016.

Fuss J, Spassov N, Begun DR, Böhme M. (2017) Potential hominin affinities of Graecopithecus from the Late Miocene of Europe. PLoS One12(5):e0177127. doi:10.1371/journal.pone.0177127

Greider, C.W. & Blackburn, E.H. (1985) Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 43 (2 Pt 1): 405–413.

Harvati K. et al. (2019). Apidima Cave fossils provide earliest evidence of Homo sapiens in Eurasia. Nature571(7766), 500–504. https://doi.org/10.1038/s41586-019-1376-z

Hershenson, S. (1939) Pryroda tak zvanykh henetychno-inertnykh chastyn khromosom. Kyyiv: Akademiya Nauk URSR. (Гершензон, С. (1939) Природа так званих генетично-інертних частин хромосом. Київ: Академія Наук УРСР.) In Ukrainian.

Gershenson S. (1928) A New Sex-Ratio Abnormality in Drosophila obscura. Genetics: 13(6):488-507. doi:10.1093/genetics/13.6.488

Hublin J-J. et al. (2017) New fossils from Jebel Irhoud, Morocco and the pan-African origin of Homo sapiens. Nature 546: 289–292. https://doi.org/10.1038/nature22336

Hutchinson GB, Andrew SE, McDonald H, Goldberg YP, Graham R, Rommens JM, Hayden MR. (1993) An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily. Nucleic Acids Res. 21(15):3379-83. doi: 10.1093/nar/21.15.3379.

Janicic N, Pausova Z, Cole DE, Hendy GN. (1995) Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet. 56(4):880-6.

Kimura, M. Evolutionary rate at the molecular level. Nature 217: 624–626 (1968) doi:10.1038/217624a0

de Koning APJ, Gu W, Castoe TA, Batzer MA, Pollock DD (2011) Repetitive Elements May Comprise Over Two-Thirds of the Human Genome. PLoS Genet 7(12): e1002384. doi:10.1371/journal.pgen.1002384 

Lyon MF. (1961) Gene action in the X chromosome of the mouse (Mus musculus L.). Nature 190: 372–373.

Mueller JL. et al. (2013) Independent specialization of the human and mouse X chromosomes for the male germ line. Nature Genetics doi:10.1038/ng.2705.

Muratani K, Hada T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K. (1991) Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. Proc Natl Acad Sci USA. 88(24):11315-9. doi: 10.1073/pnas.88.24.11315.

Nikitin AG, Shmookler Reis RJ. (1997). Role of transposable elements in age-related genomic instability. Genetical research69(3), 183–195. https://doi.org/10.1017/s0016672397002772

Ohno S. (1967) Sex Chromosomes and sex-linked genes. Berlin:Springer-Verlag.

Olalde I. et al. (2014) Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature 507, 225–228.

Olovnikov AM. (1973) A theory of marginotomy. The incomplete copying of template margin in enzymatic synthesis of polynucleotides and biological significance of the phenomenon. J Theor Biol.14;41(1):181-90.

Pidpala OV, Yatsishina AP, Lukash LL. (2008) Human Mobile Genetic Elements: Structure, Distribution and Functional Role. Cytology and Genetics 42(6): 420–43.

Pier GB. et al. (1998). Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature393(6680), 79–82. https://doi.org/10.1038/30006

Polderman TJ. et al.. (2015). Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nature genetics, 47(7), 702–709. https://doi.org/10.1038/ng.3285 

Puig M, Casillas S, Villatoro S, Cáceres M. (2015)  Human inversions and their functional consequences. Briefings in Functional Genomics 14(5): 369–379. https://doi.org/10.1093/bfgp/elv020

Püschel HP. et al. (2021). Divergence-time estimates for hominins provide insight into encephalization and body mass trends in human evolution. Nature Ecology & Evolution 5(6): 808–819. doi:10.1038/s41559-021-01431-1

Ruby JG. et al. (2018). Estimates of the Heritability of Human Longevity Are Substantially Inflated due to Assortative Mating. Genetics 210(3):1109-1124. doi: 10.1534/genetics.118.301613.

Salem AH. et al. (2003) Alu elements and hominid phylogenetics. Proceedings of the National Academy of Sciences 100, 12787–12791.

Swann JB, Smyth MJ. (2007) Immune surveillance of tumors. J Clin Invest. 117(5): 1137-46. doi: 10.1172/JCI31405.

Soudet J, Jolivet P, Teixeira M. (2014). Elucidation of the DNA end-replication problem in Saccharomyces cerevisiae. Molecular cell53(6), 954–964. https://doi.org/10.1016/j.molcel.2014.02.030

Stedman HH. et al. (2004). Myosin gene mutation correlates with anatomical changes in the human lineage. Nature428(6981), 415–418. https://doi.org/10.1038/nature02358

Stulp G, Barrett G, Tropf FC, Mills M. (2015) Does natural selection favour taller stature among the tallest people on earth? The Royal Society Proceedings B:DOI: 10.1098/rspb.2015.0211  

Tong, Zhi-Bin, Bondy, Carolyn A., Zhou, Jian, Nelson, Lawrence M. (2002) A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. Human reproduction 17 (4): 903-911.

Turing AM. (1952) Phil. Trans. R. Soc. Lond. B 237: 37–72.

Valladas H. et al. (1998) Gif Laboratory dates for Middle Paleolithic Levant. In T. Akazawa, K. Aoki, and O. Bar-Yosef, eds. Neandertals and modern humans in Western Asia. New York: Plenum Press. pp. 69-75.

Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS. (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature 353(6347): 864-6. doi: 10.1038/353864a0.

Walser CB, Lipshitz HD. (2011) Transcript clearance during the maternal-to-zygotic transition. Current Opinion in Genetics & Development 21 (4): 431-443, https://doi.org/10.1016/j.gde.2011.03.003. 

Woolf LI. (1986) The heterozygote advantage in phenylketonuria. American Journal of Human Genetics 38(5): 773–775.

Wu S, Powers S, Zhu W, Hannun YA. (2015) Substantial contribution of extrinsic risk factors to cancer development. Nature doi:10.1038/nature16166.

Xing J. et al. (2007) Mobile elements in primate and human evolution. Yearbook of Physical Anthropology 50: 2–19.

Xue Z. et al. (2013) Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing. Nature 500: 593–597, doi:10.1038/nature12364.

Yunis EJ, Svardal JM, BridgesRA. (1969) Genetics of the Bombay Phenotype. Blood 33(1): 124-132. 

Zhu P. et al. (2018 ) Single-cell DNA methylome sequencing of human preimplantation embryos. Nat. Genet. 50, 12, https://doi.org/10.1038/s41588-017-0007-6.

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