{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T07:19:50Z","timestamp":1777706390941,"version":"3.51.4"},"reference-count":78,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100010221","name":"Higher Education Commision, Pakistan","doi-asserted-by":"publisher","award":["A\/04\/30796"],"award-info":[{"award-number":["A\/04\/30796"]}],"id":[{"id":"10.13039\/501100010221","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["NE 531\/5-1"],"award-info":[{"award-number":["NE 531\/5-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Collaboratve Research Center 577"],"award-info":[{"award-number":["Collaboratve Research Center 577"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Collaborative Research Center 1399"],"award-info":[{"award-number":["Collaborative Research Center 1399"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002839","name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002839","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in <jats:italic>PLK4<\/jats:italic> lead to primary microcephaly, altered <jats:italic>PLK4<\/jats:italic> expression is associated with aneuploidy in human embryos. Here, we report on a consanguineous four-generation family with 8 affected individuals compound heterozygous for a novel missense variant, c.881\u00a0T\u2009&gt;\u2009G, and a deletion of the <jats:italic>PLK4<\/jats:italic> gene. The clinical phenotype of the adult patients is mild compared to individuals with previously described <jats:italic>PLK4<\/jats:italic> mutations. One individual was homozygous for the variant c.881G and phenotypically unaffected. The deletion was inherited by 14 of 16 offspring and thus exhibits transmission ratio distortion (TRD). Moreover, based on the already published families with <jats:italic>PLK4<\/jats:italic> mutations, it could be shown that due to the preferential transmission of the mutant alleles, the number of affected offspring is significantly increased. It is assumed that reduced expression of <jats:italic>PLK4<\/jats:italic> decreases the intrinsically high error rate of the first cell divisions after fertilization, increases the number of viable embryos and thus leads to preferential transmission of the deleted\/mutated alleles.<\/jats:p>","DOI":"10.1007\/s00439-022-02461-w","type":"journal-article","created":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T07:02:51Z","timestamp":1652166171000},"page":"1785-1794","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4"],"prefix":"10.1007","volume":"141","author":[{"given":"Heidemarie","family":"Neitzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raymonda","family":"Varon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sana","family":"Chughtai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josephine","family":"Dartsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Dutrannoy-T\u00f6nsing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gudrun","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Schweiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Digweed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Hildebrand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Hackmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Holtgrewe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nanette","family":"Sarioglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernt","family":"Schulze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2305-4370","authenticated-orcid":false,"given":"Karl","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,5,10]]},"reference":[{"key":"2461_CR1","doi-asserted-by":"publisher","first-page":"742","DOI":"10.1093\/bioinformatics\/17.8.742","volume":"17","author":"GR Abecasis","year":"2001","unstructured":"Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2001) GRR: graphical representation of relationship errors. Bioinformatics 17:742\u2013743","journal-title":"Bioinformatics"},{"key":"2461_CR2","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/ng786","volume":"30","author":"GR Abecasis","year":"2002","unstructured":"Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin\u2013rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97\u2013101. https:\/\/doi.org\/10.1038\/ng786","journal-title":"Nat Genet"},{"key":"2461_CR3","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249. https:\/\/doi.org\/10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"2461_CR4","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1093\/molehr\/gar009","volume":"17","author":"C Alvarez Sedo","year":"2011","unstructured":"Alvarez Sedo C, Schatten H, Combelles CM, Rawe VY (2011) The nuclear mitotic apparatus (NuMA) protein: localization and dynamics in human oocytes, fertilization and early embryos. Mol Hum Reprod 17:392\u2013398. https:\/\/doi.org\/10.1093\/molehr\/gar009","journal-title":"Mol Hum Reprod"},{"key":"2461_CR5","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1016\/j.fertnstert.2014.02.050","volume":"101","author":"K Athayde Wirka","year":"2014","unstructured":"Athayde Wirka K et al (2014) Atypical embryo phenotypes identified by time-lapse microscopy: high prevalence and association with embryo development. Fertil Steril 101:1637\u20131648. https:\/\/doi.org\/10.1016\/j.fertnstert.2014.02.050","journal-title":"Fertil Steril"},{"key":"2461_CR6","doi-asserted-by":"publisher","first-page":"R33","DOI":"10.1530\/REP-18-0350","volume":"157","author":"T Avidor-Reiss","year":"2019","unstructured":"Avidor-Reiss T, Fishman EL (2019) It takes two (centrioles) to tango. Reproduction 157:R33\u2013R51. https:\/\/doi.org\/10.1530\/REP-18-0350","journal-title":"Reproduction"},{"key":"2461_CR7","doi-asserted-by":"publisher","first-page":"219","DOI":"10.3389\/fcell.2020.00219","volume":"8","author":"T Avidor-Reiss","year":"2020","unstructured":"Avidor-Reiss T, Zhang Z, Li XZ (2020) Editorial: sperm differentiation and spermatozoa function: mechanisms, diagnostics, and treatment. Front Cell Dev Biol 8:219. https:\/\/doi.org\/10.3389\/fcell.2020.00219","journal-title":"Front Cell Dev Biol"},{"key":"2461_CR8","doi-asserted-by":"publisher","first-page":"5969","DOI":"10.1038\/ncomms6969","volume":"6","author":"S Besenbacher","year":"2015","unstructured":"Besenbacher S et al (2015) Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. Nat Commun 6:5969. https:\/\/doi.org\/10.1038\/ncomms6969","journal-title":"Nat Commun"},{"key":"2461_CR9","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/j.tig.2011.05.004","volume":"27","author":"M Bettencourt-Dias","year":"2011","unstructured":"Bettencourt-Dias M, Hildebrandt F, Pellman D, Woods G, Godinho SA (2011) Centrosomes and cilia in human disease. Trends Genet 27:307\u2013315. https:\/\/doi.org\/10.1016\/j.tig.2011.05.004","journal-title":"Trends Genet"},{"key":"2461_CR10","doi-asserted-by":"publisher","first-page":"2199","DOI":"10.1016\/j.cub.2005.11.042","volume":"15","author":"M Bettencourt-Dias","year":"2005","unstructured":"Bettencourt-Dias M et al (2005) SAK\/PLK4 is required for centriole duplication and flagella development. Curr Biol 15:2199\u20132207. https:\/\/doi.org\/10.1016\/j.cub.2005.11.042","journal-title":"Curr Biol"},{"key":"2461_CR11","volume-title":"Aneuploidy: The origins and causes of aneuploidy in experimental organisms","author":"DJ Bond","year":"1983","unstructured":"Bond DJ, Chandley AC (1983) Aneuploidy: The origins and causes of aneuploidy in experimental organisms. Oxford University Press, Oxford"},{"key":"2461_CR12","doi-asserted-by":"publisher","first-page":"2375","DOI":"10.1038\/onc.2013.183","volume":"33","author":"P Cappello","year":"2014","unstructured":"Cappello P et al (2014) Role of Nek2 on centrosome duplication and aneuploidy in breast cancer cells. Oncogene 33:2375\u20132384. https:\/\/doi.org\/10.1038\/onc.2013.183","journal-title":"Oncogene"},{"key":"2461_CR13","doi-asserted-by":"publisher","first-page":"3264","DOI":"10.3390\/ijms22063264","volume":"22","author":"F Cioppi","year":"2021","unstructured":"Cioppi F, Rosta V, Krausz C (2021) Genetics of Azoospermia. Int J Mol Sci 22:3264. https:\/\/doi.org\/10.3390\/ijms22063264","journal-title":"Int J Mol Sci"},{"key":"2461_CR14","doi-asserted-by":"publisher","first-page":"586","DOI":"10.1016\/j.devcel.2013.09.029","volume":"27","author":"PA Coelho","year":"2013","unstructured":"Coelho PA et al (2013) Spindle formation in the mouse embryo requires Plk4 in the absence of centrioles. Dev Cell 27:586\u2013597. https:\/\/doi.org\/10.1016\/j.devcel.2013.09.029","journal-title":"Dev Cell"},{"key":"2461_CR15","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo MA et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491\u2013498. https:\/\/doi.org\/10.1038\/ng.806","journal-title":"Nat Genet"},{"key":"2461_CR16","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1038\/ejhg.2017.120","volume":"25","author":"T Dincer","year":"2017","unstructured":"Dincer T et al (2017) Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome. Eur J Hum Genet 25:1118\u20131125. https:\/\/doi.org\/10.1038\/ejhg.2017.120","journal-title":"Eur J Hum Genet"},{"key":"2461_CR17","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1016\/j.cub.2011.01.072","volume":"21","author":"F Eckerdt","year":"2011","unstructured":"Eckerdt F, Yamamoto TM, Lewellyn AL, Maller JL (2011) Identification of a polo-like kinase 4-dependent pathway for de novo centriole formation. Curr Biol 21:428\u2013432. https:\/\/doi.org\/10.1016\/j.cub.2011.01.072","journal-title":"Curr Biol"},{"key":"2461_CR18","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1093\/bioinformatics\/btu314","volume":"30","author":"GG Faust","year":"2014","unstructured":"Faust GG, Hall IM (2014) SAMBLASTER: fast duplicate marking and structural variant read extraction. Bioinformatics 30:2503\u20132505. https:\/\/doi.org\/10.1093\/bioinformatics\/btu314","journal-title":"Bioinformatics"},{"key":"2461_CR19","doi-asserted-by":"publisher","first-page":"2210","DOI":"10.1038\/s41467-018-04678-8","volume":"9","author":"Fishman","year":"2018","unstructured":"Fishman et al (2018) A novel atypical sperm centriole is functional during human fertilization. Nat Commun 9:2210. https:\/\/doi.org\/10.1038\/s41467-018-04678-8","journal-title":"Nat Commun"},{"key":"2461_CR20","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1038\/nature08136","volume":"460","author":"NJ Ganem","year":"2009","unstructured":"Ganem NJ, Godinho SA, Pellman D (2009) A mechanism linking extra centrosomes to chromosomal instability. Nature 460:278\u2013282. https:\/\/doi.org\/10.1038\/nature08136","journal-title":"Nature"},{"key":"2461_CR21","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1038\/75514","volume":"25","author":"DF Gudbjartsson","year":"2000","unstructured":"Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2000) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12\u201313. https:\/\/doi.org\/10.1038\/75514","journal-title":"Nat Genet"},{"key":"2461_CR22","doi-asserted-by":"publisher","first-page":"1377","DOI":"10.1038\/ng.3669","volume":"48","author":"BV Halldorsson","year":"2016","unstructured":"Halldorsson BV et al (2016) The rate of meiotic gene conversion varies by sex and age. Nat Genet 48:1377\u20131384. https:\/\/doi.org\/10.1038\/ng.3669","journal-title":"Nat Genet"},{"key":"2461_CR23","doi-asserted-by":"publisher","DOI":"10.1126\/science.aau1043","author":"BV Halldorsson","year":"2019","unstructured":"Halldorsson BV et al (2019) Characterizing mutagenic effects of recombination through a sequence-level genetic map. Science. https:\/\/doi.org\/10.1126\/science.aau1043","journal-title":"Science"},{"key":"2461_CR24","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1002\/rmb2.12077","volume":"17","author":"M Hayashi","year":"2018","unstructured":"Hayashi M, Kawaguchi T, Durcova-Hills G, Imai H (2018) Generation of germ cells from pluripotent stem cells in mammals. Reprod Med Biol 17:107\u2013114. https:\/\/doi.org\/10.1002\/rmb2.12077","journal-title":"Reprod Med Biol"},{"key":"2461_CR25","doi-asserted-by":"publisher","unstructured":"Hlinka D et al (2012) Time-lapse cleavage rating predicts human embryo viability. Physiol Res 61: 513\u2013525. https:\/\/doi.org\/10.33549\/physiolres.932287","DOI":"10.33549\/physiolres.932287"},{"key":"2461_CR26","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1083\/jcb.200911102","volume":"188","author":"AJ Holland","year":"2010","unstructured":"Holland AJ, Lan W, Niessen S, Hoover H, Cleveland DW (2010) Polo-like kinase 4 kinase activity limits centrosome overduplication by autoregulating its own stability. J Cell Biol 188:191\u2013988. https:\/\/doi.org\/10.1083\/jcb.200911102","journal-title":"J Cell Biol"},{"key":"2461_CR27","doi-asserted-by":"publisher","first-page":"1262","DOI":"10.1002\/ajmg.a.35286","volume":"158A","author":"C Honeywell","year":"2012","unstructured":"Honeywell C et al (2012) Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree. Am J Med Genet A 158A:1262\u20131268. https:\/\/doi.org\/10.1002\/ajmg.a.35286","journal-title":"Am J Med Genet A"},{"key":"2461_CR28","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1007\/s00439-012-1257-0","volume":"132","author":"LO Huang","year":"2013","unstructured":"Huang LO, Labbe A, Infante-Rivard C (2013) Transmission ratio distortion: review of concept and implications for genetic association studies. Hum Genet 132:245\u2013263. https:\/\/doi.org\/10.1007\/s00439-012-1257-0","journal-title":"Hum Genet"},{"key":"2461_CR29","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/s0960-9822(01)00117-8","volume":"11","author":"JW Hudson","year":"2001","unstructured":"Hudson JW et al (2001) Late mitotic failure in mice lacking Sak, a polo-like kinase. Curr Biol 11:441\u2013446. https:\/\/doi.org\/10.1016\/s0960-9822(01)00117-8","journal-title":"Curr Biol"},{"key":"2461_CR30","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1146\/annurev-genom-083117-021441","volume":"19","author":"D Jayaraman","year":"2018","unstructured":"Jayaraman D, Bae BI, Walsh CA (2018) The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet 19:177\u2013200. https:\/\/doi.org\/10.1146\/annurev-genom-083117-021441","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2461_CR31","doi-asserted-by":"publisher","first-page":"15680","DOI":"10.1038\/ncomms15680","volume":"8","author":"D Jung","year":"2017","unstructured":"Jung D et al (2017) In vitro differentiation of human embryonic stem cells into ovarian follicle-like cells. Nat Commun 8:15680. https:\/\/doi.org\/10.1038\/ncomms15680","journal-title":"Nat Commun"},{"key":"2461_CR32","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.acthis.2014.11.009","volume":"117","author":"B Kalatova","year":"2015","unstructured":"Kalatova B, Jesenska R, Hlinka D, Dudas M (2015) Tripolar mitosis in human cells and embryos: occurrence, pathophysiology and medical implications. Acta Histochem 117:111\u2013125. https:\/\/doi.org\/10.1016\/j.acthis.2014.11.009","journal-title":"Acta Histochem"},{"key":"2461_CR33","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1038\/ng1605","volume":"37","author":"MA Ko","year":"2005","unstructured":"Ko MA et al (2005) Plk4 haploinsufficiency causes mitotic infidelity and carcinogenesis. Nat Genet 37:883\u2013888. https:\/\/doi.org\/10.1038\/ng1605","journal-title":"Nat Genet"},{"key":"2461_CR34","first-page":"1347","volume":"58","author":"L Kruglyak","year":"1996","unstructured":"Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347\u20131363","journal-title":"Am J Hum Genet"},{"key":"2461_CR35","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A 81:3443\u20133446","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2461_CR36","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s10815-016-0845-7","volume":"34","author":"A Lee","year":"2017","unstructured":"Lee A, Kiessling AA (2017) Early human embryos are naturally aneuploid-can that be corrected? J Assist Reprod Genet 34:15\u201321. https:\/\/doi.org\/10.1007\/s10815-016-0845-7","journal-title":"J Assist Reprod Genet"},{"key":"2461_CR37","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H et al (2009) The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25:2078\u20132079. https:\/\/doi.org\/10.1093\/bioinformatics\/btp352","journal-title":"Bioinformatics"},{"key":"2461_CR38","doi-asserted-by":"publisher","first-page":"2133","DOI":"10.1007\/s10815-018-1285-3","volume":"35","author":"M Lubinsky","year":"2018","unstructured":"Lubinsky M (2018) Evolutionary justifications for human reproductive limitations. J Assist Reprod Genet 35:2133\u20132139. https:\/\/doi.org\/10.1007\/s10815-018-1285-3","journal-title":"J Assist Reprod Genet"},{"key":"2461_CR39","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1038\/ng.3122","volume":"46","author":"CA Martin","year":"2014","unstructured":"Martin CA et al (2014) Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet 46:1283\u20131292. https:\/\/doi.org\/10.1038\/ng.3122","journal-title":"Nat Genet"},{"key":"2461_CR40","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1159\/000514280","volume":"93","author":"A Martin-Rivada","year":"2020","unstructured":"Martin-Rivada A et al (2020) Primary dwarfism, microcephaly, and chorioretinopathy due to a plk4 mutation in two siblings. Horm Res Paediatr 93:567\u2013572. https:\/\/doi.org\/10.1159\/000514280","journal-title":"Horm Res Paediatr"},{"key":"2461_CR41","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1126\/science.aaa3337","volume":"348","author":"RC McCoy","year":"2015","unstructured":"McCoy RC et al (2015a) Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos. Science 348:235\u2013238. https:\/\/doi.org\/10.1126\/science.aaa3337","journal-title":"Science"},{"key":"2461_CR42","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005601","volume":"11","author":"RC McCoy","year":"2015","unstructured":"McCoy RC et al (2015b) Evidence of Selection against Complex Mitotic-Origin Aneuploidy during Preimplantation Development. PLoS Genet 11:e1005601. https:\/\/doi.org\/10.1371\/journal.pgen.1005601","journal-title":"PLoS Genet"},{"key":"2461_CR43","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1016\/j.tig.2017.04.001","volume":"33","author":"RC McCoy","year":"2017","unstructured":"McCoy RC (2017) Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm. Trends Genet 33:448\u2013463. https:\/\/doi.org\/10.1016\/j.tig.2017.04.001","journal-title":"Trends Genet"},{"key":"2461_CR44","doi-asserted-by":"publisher","first-page":"2573","DOI":"10.1093\/hmg\/ddy147","volume":"27","author":"RC McCoy","year":"2018","unstructured":"McCoy RC et al (2018) Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos. Hum Mol Genet 27:2573\u20132585. https:\/\/doi.org\/10.1093\/hmg\/ddy147","journal-title":"Hum Mol Genet"},{"key":"2461_CR45","doi-asserted-by":"publisher","first-page":"8","DOI":"10.21037\/arh.2019.02.02","volume":"3","author":"Svb MC","year":"2019","unstructured":"Svb MC (2019) Molecular aspects of aneuploidy in preimplantation human embryos: a mini-review. Ann Res Hosp 3:8","journal-title":"Ann Res Hosp"},{"key":"2461_CR46","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1534\/genetics.112.139576","volume":"191","author":"WK Meyer","year":"2012","unstructured":"Meyer WK et al (2012) Evaluating the evidence for transmission distortion in human pedigrees. Genetics 191:215\u2013232. https:\/\/doi.org\/10.1534\/genetics.112.139576","journal-title":"Genetics"},{"key":"2461_CR47","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1111\/andr.12113","volume":"4","author":"T Miyamoto","year":"2016","unstructured":"Miyamoto T et al (2016) A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. Andrology 4:75\u201381. https:\/\/doi.org\/10.1111\/andr.12113","journal-title":"Andrology"},{"key":"2461_CR48","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1534\/genetics.117.300109","volume":"207","author":"JH Nadeau","year":"2017","unstructured":"Nadeau JH (2017) Do Gametes Woo? Evidence for Their Nonrandom Union at Fertilization. Genetics 207:369\u2013387. https:\/\/doi.org\/10.1534\/genetics.117.300109","journal-title":"Genetics"},{"key":"2461_CR49","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672318000046","author":"M Naveed","year":"2018","unstructured":"Naveed M et al (2018) Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (camb). https:\/\/doi.org\/10.1017\/S0016672318000046","journal-title":"Genet Res (camb)"},{"key":"2461_CR50","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1007\/BF00279094","volume":"73","author":"H Neitzel","year":"1986","unstructured":"Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320\u2013326","journal-title":"Hum Genet"},{"key":"2461_CR51","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1038\/nrm.2017.127","volume":"19","author":"EA Nigg","year":"2018","unstructured":"Nigg EA, Holland AJ (2018) Once and only once: mechanisms of centriole duplication and their deregulation in disease. Nat Rev Mol Cell Biol 19:297\u2013312. https:\/\/doi.org\/10.1038\/nrm.2017.127","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2461_CR52","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1086\/301904","volume":"63","author":"JR O'Connell","year":"1998","unstructured":"O\u2019Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259\u2013266. https:\/\/doi.org\/10.1086\/301904","journal-title":"Am J Hum Genet"},{"key":"2461_CR53","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2018.05.030","author":"M Ohta","year":"2018","unstructured":"Ohta M et al (2018) Bimodal binding of STIL to Plk4 controls proper centriole copy number. Cell Rep. https:\/\/doi.org\/10.1016\/j.celrep.2018.05.030","journal-title":"Cell Rep"},{"key":"2461_CR54","doi-asserted-by":"publisher","first-page":"9744","DOI":"10.1038\/s41598-017-09693-1","volume":"7","author":"CS Ottolini","year":"2017","unstructured":"Ottolini CS et al (2017) Tripolar mitosis and partitioning of the genome arrests human preimplantation development in vitro. Sci Rep 7:9744. https:\/\/doi.org\/10.1038\/s41598-017-09693-1","journal-title":"Sci Rep"},{"key":"2461_CR55","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1093\/oxfordjournals.humrep.a138682","volume":"9","author":"G Palermo","year":"1994","unstructured":"Palermo G, Munne S, Cohen J (1994) The human zygote inherits its mitotic potential from the male gamete. Hum Reprod 9:1220\u20131225. https:\/\/doi.org\/10.1093\/oxfordjournals.humrep.a138682","journal-title":"Hum Reprod"},{"key":"2461_CR56","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1186\/s13104-019-4137-z","volume":"12","author":"A Piovesan","year":"2019","unstructured":"Piovesan A et al (2019) On the length, weight and GC content of the human genome. BMC Res Notes 12:106. https:\/\/doi.org\/10.1186\/s13104-019-4137-z","journal-title":"BMC Res Notes"},{"key":"2461_CR57","doi-asserted-by":"publisher","first-page":"188467","DOI":"10.1016\/j.bbcan.2020.188467","volume":"1875","author":"CA Raab","year":"2021","unstructured":"Raab CA, Raab M, Becker S, Strebhardt K (2021) Non-mitotic functions of polo-like kinases in cancer cells. Biochim Biophys Acta Rev Cancer 1875:188467. https:\/\/doi.org\/10.1016\/j.bbcan.2020.188467","journal-title":"Biochim Biophys Acta Rev Cancer"},{"key":"2461_CR58","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1126\/science.2876518","volume":"234","author":"S Rogers","year":"1986","unstructured":"Rogers S, Wells R, Rechsteiner M (1986) Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis. Science 234:364\u2013368. https:\/\/doi.org\/10.1126\/science.2876518","journal-title":"Science"},{"key":"2461_CR59","doi-asserted-by":"publisher","first-page":"6888","DOI":"10.1073\/pnas.0910941107","volume":"107","author":"CO Rosario","year":"2010","unstructured":"Rosario CO et al (2010) Plk4 is required for cytokinesis and maintenance of chromosomal stability. Proc Natl Acad Sci U S A 107:6888\u20136893. https:\/\/doi.org\/10.1073\/pnas.0910941107","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2461_CR60","doi-asserted-by":"publisher","first-page":"2123","DOI":"10.1093\/bioinformatics\/bti264","volume":"21","author":"F Ruschendorf","year":"2005","unstructured":"Ruschendorf F, Nurnberg P (2005) ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 21:2123\u20132125. https:\/\/doi.org\/10.1093\/bioinformatics\/bti264","journal-title":"Bioinformatics"},{"key":"2461_CR61","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1093\/humrep\/11.2.345","volume":"11","author":"AH Sathananthan","year":"1996","unstructured":"Sathananthan AH et al (1996) The sperm centriole: its inheritance, replication and perpetuation in early human embryos. Hum Reprod 11:345\u2013356. https:\/\/doi.org\/10.1093\/humrep\/11.2.345","journal-title":"Hum Reprod"},{"key":"2461_CR62","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1530\/REP-11-0261","volume":"142","author":"H Schatten","year":"2011","unstructured":"Schatten H, Sun QY (2011) New insights into the role of centrosomes in mammalian fertilization and implications for ART. Reproduction 142:793\u2013801. https:\/\/doi.org\/10.1530\/REP-11-0261","journal-title":"Reproduction"},{"key":"2461_CR63","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, Rodelsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7:575\u2013576. https:\/\/doi.org\/10.1038\/nmeth0810-575","journal-title":"Nat Methods"},{"key":"2461_CR64","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1136\/jmedgenet-2014-102790","volume":"51","author":"R Shaheen","year":"2014","unstructured":"Shaheen R, Al Tala S, Almoisheer A, Alkuraya FS (2014) Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J Med Genet 51:814\u2013816. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102790","journal-title":"J Med Genet"},{"key":"2461_CR65","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11050581","author":"N Siskos","year":"2021","unstructured":"Siskos N, Stylianopoulou E, Skavdis G, Grigoriou ME (2021) Molecular genetics of microcephaly primary hereditary: an overview. Brain Sci. https:\/\/doi.org\/10.3390\/brainsci11050581","journal-title":"Brain Sci"},{"key":"2461_CR66","doi-asserted-by":"publisher","first-page":"3223","DOI":"10.1242\/jcs.129502","volume":"126","author":"KF Sonnen","year":"2013","unstructured":"Sonnen KF, Gabryjonczyk AM, Anselm E, Stierhof YD, Nigg EA (2013) Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication. J Cell Sci 126:3223\u20133233. https:\/\/doi.org\/10.1242\/jcs.129502","journal-title":"J Cell Sci"},{"key":"2461_CR67","doi-asserted-by":"publisher","first-page":"4561","DOI":"10.3892\/mmr.2020.11574","volume":"22","author":"M Stabile","year":"2020","unstructured":"Stabile M et al (2020) A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families. Mol Med Rep 22:4561\u20134566. https:\/\/doi.org\/10.3892\/mmr.2020.11574","journal-title":"Mol Med Rep"},{"key":"2461_CR68","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1101\/gr.262774.120","volume":"30","author":"MR Starostik","year":"2020","unstructured":"Starostik MR, Sosina OA, McCoy RC (2020) Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism. Genome Res 30:814\u2013825. https:\/\/doi.org\/10.1101\/gr.262774.120","journal-title":"Genome Res"},{"key":"2461_CR69","doi-asserted-by":"publisher","first-page":"1730","DOI":"10.1093\/bioinformatics\/bth488","volume":"21","author":"H Thiele","year":"2005","unstructured":"Thiele H, Nurnberg P (2005) HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 21:1730\u20131732. https:\/\/doi.org\/10.1093\/bioinformatics\/bth488","journal-title":"Bioinformatics"},{"key":"2461_CR70","doi-asserted-by":"publisher","first-page":"1702","DOI":"10.1038\/ejhg.2016.119","volume":"24","author":"M Tsutsumi","year":"2016","unstructured":"Tsutsumi M et al (2016) Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur J Hum Genet 24:1702\u20131706. https:\/\/doi.org\/10.1038\/ejhg.2016.119","journal-title":"Eur J Hum Genet"},{"key":"2461_CR71","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1002\/ajhb.20907","volume":"21","author":"C Valeggia","year":"2009","unstructured":"Valeggia C, Ellison PT (2009) Interactions between metabolic and reproductive functions in the resumption of postpartum fecundity. Am J Hum Biol 21:559\u2013566. https:\/\/doi.org\/10.1002\/ajhb.20907","journal-title":"Am J Hum Biol"},{"key":"2461_CR72","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1002\/ajmg.a.31126","volume":"140","author":"V Vanita","year":"2006","unstructured":"Vanita V, Singh D, Robinson PN, Sperling K, Singh JR (2006) A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant \u201ccerulean cataract\u201d in an Indian family. Am J Med Genet A 140:558\u2013566. https:\/\/doi.org\/10.1002\/ajmg.a.31126","journal-title":"Am J Med Genet A"},{"key":"2461_CR73","doi-asserted-by":"publisher","first-page":"10486","DOI":"10.1038\/ncomms10486","volume":"7","author":"WS Wong","year":"2016","unstructured":"Wong WS et al (2016) New observations on maternal age effect on germline de novo mutations. Nat Commun 7:10486. https:\/\/doi.org\/10.1038\/ncomms10486","journal-title":"Nat Commun"},{"key":"2461_CR74","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1093\/hmg\/ddh016","volume":"13","author":"K Woodfine","year":"2004","unstructured":"Woodfine K et al (2004) Replication timing of the human genome. Hum Mol Genet 13:191\u2013202. https:\/\/doi.org\/10.1093\/hmg\/ddh016","journal-title":"Hum Mol Genet"},{"key":"2461_CR75","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.sbi.2020.08.005","volume":"66","author":"S Yamamoto","year":"2021","unstructured":"Yamamoto S, Kitagawa D (2021) Emerging insights into symmetry breaking in centriole duplication: updated view on centriole duplication theory. Curr Opin Struct Biol 66:8\u201314. https:\/\/doi.org\/10.1016\/j.sbi.2020.08.005","journal-title":"Curr Opin Struct Biol"},{"key":"2461_CR76","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0166398","volume":"11","author":"Q Zhan","year":"2016","unstructured":"Zhan Q, Ye Z, Clarke R, Rosenwaks Z, Zaninovic N (2016) Direct unequal cleavages: embryo developmental competence, genetic constitution and clinical outcome. PLoS ONE 11:e0166398. https:\/\/doi.org\/10.1371\/journal.pone.0166398","journal-title":"PLoS ONE"},{"key":"2461_CR77","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2017.01.006","author":"Q Zhang","year":"2017","unstructured":"Zhang Q et al (2017) Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage. Fertil Steril. https:\/\/doi.org\/10.1016\/j.fertnstert.2017.01.006","journal-title":"Fertil Steril"},{"key":"2461_CR78","doi-asserted-by":"publisher","first-page":"2413","DOI":"10.1007\/s00432-019-02994-0","volume":"145","author":"Y Zhao","year":"2019","unstructured":"Zhao Y, Wang X (2019) PLK4: a promising target for cancer therapy. J Cancer Res Clin Oncol 145:2413\u20132422. https:\/\/doi.org\/10.1007\/s00432-019-02994-0","journal-title":"J Cancer Res Clin Oncol"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02461-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-022-02461-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02461-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,12]],"date-time":"2022-10-12T17:09:31Z","timestamp":1665594571000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-022-02461-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,10]]},"references-count":78,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["2461"],"URL":"https:\/\/doi.org\/10.1007\/s00439-022-02461-w","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,10]]},"assertion":[{"value":"11 February 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 April 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}},{"value":"This study was performed in line with the principles of the Declaration of Helsinki. All procedures were performed in accordance with the ethical standards of the \u201cEthics Committee of the Charit\u00e9\u2014Universitaetsmedizin, Berlin\u201d and with the consent of the subjects\u2019 legal guardian.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate (publish)"}}]}}