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tics wikipedia jump to content main menu main menu move to sidebar hide navigation main page contents current events random article about wikipedia contact us contribute help learn to edit community portal recent changes upload file special pages search search appearance donate create account log in personal tools donate create account log in contents move to sidebar hide top 1 causes 2 types 3 nomenclature 4 effects 5 detection 6 mitochondrial dna deletions 7 see also 8 references toggle the table of contents deletion genetics 36 languages العربية беларуская bosanski català کوردی deutsch español euskara فارسی français galego magyar հայերեն bahasa indonesia italiano 日本語 ქართული қазақша 한국어 кыргызча latina lietuvių македонски nederlands norsk bokmål polski português русский srpskohrvatski српскохрватски српски srpski ไทย tagalog türkçe українська اردو 中文 edit links article talk english read edit view history tools tools move to sidebar hide actions read edit view history general what links here related changes upload file permanent link page information cite this page get shortened url switch to legacy parser print export download as pdf printable version in other projects wikimedia commons wikidata item appearance move to sidebar hide from wikipedia the free encyclopedia redirected from deletion mutation mutation that removes a part of a dna sequence deletion on a chromosome in genetics a deletion also called gene deletion deficiency or deletion mutation sign δ is a mutation a genetic aberration in which a part of a chromosome or a sequence of dna is left out during dna replication any number of nucleotides can be deleted from a single base to an entire piece of chromosome 1 some chromosomes have fragile spots where breaks occur which result in the deletion of a part of the chromosome the breaks can be induced by heat viruses radiation or chemical reactions when a chromosome breaks if a part of it is deleted or lost the missing piece of chromosome is referred to as a deletion or a deficiency 2 for synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop the smallest single base deletion mutations occur by a single base flipping in the template dna followed by template dna strand slippage within the dna polymerase active site 3 4 5 deletions can be caused by errors in chromosomal crossover during meiosis which causes several serious genetic diseases deletions that do not occur in multiples of three bases can cause a frameshift by changing the 3 nucleotide protein reading frame of the genetic sequence deletions are representative of eukaryotic organisms including humans and not in prokaryotic organisms such as bacteria causes edit causes include the following losses from translocation chromosomal crossovers within a chromosomal inversion unequal crossing over breaking without rejoining types edit types of deletion include the following terminal deletion a deletion that occurs towards the end of a chromosome intercalary interstitial deletion a deletion that occurs from the interior of a chromosome microdeletion a relatively small amount of deletion up to 5mb that could include a dozen genes micro deletion is usually found in children with physical abnormalities a large amount of deletion would result in immediate abortion miscarriage nomenclature edit three chromosomal abnormalities with iscn nomenclature with increasing complexity a a tumour karyotype in a male with loss of the y chromosome b prader willi syndrome i e deletion in the 15q11 q12 region and c an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities 6 human karyotype with annotated bands and sub bands as used for the nomenclature of chromosome abnormalities it shows dark and white regions as seen on g banding each row is vertically aligned at centromere level it shows 22 homologous autosomal chromosome pairs both the female xx and male xy versions of the two sex chromosomes as well as the mitochondrial genome at bottom left further information karyotype the international system for human cytogenomic nomenclature iscn is an international standard for human chromosome nomenclature which includes band names symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities abbreviations include a minus sign for chromosome deletions and del for deletions of parts of a chromosome 7 effects edit small deletions are less likely to be fatal large deletions are usually fatal there are always variations based on which genes are lost some medium sized deletions lead to recognizable human disorders e g williams syndrome deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation causing all of the codons occurring after the deletion to be read incorrectly during translation producing a severely altered and potentially nonfunctional protein in contrast a deletion that is evenly divisible by three is called an in frame deletion 8 deletions are responsible for an array of genetic disorders including some cases of male infertility two thirds of cases of duchenne muscular dystrophy 1 and two thirds of cases of cystic fibrosis those caused by δf508 9 deletion of part of the short arm of chromosome 5 results in cri du chat syndrome 1 deletions in the smn encoding gene cause spinal muscular atrophy the most common genetic cause of infant death microdeletions are associated with many different conditions including angelman syndrome prader willi syndrome and digeorge syndrome 10 some syndromes including angelman syndrome and prader willi syndrome are associated with both microdeletions and genomic imprinting meaning that same microdeletion can cause two different syndromes depending on which parent the deletion came from 11 recent work suggests that some deletions of highly conserved sequences condels may be responsible for the evolutionary differences present among closely related species such deletions in humans referred to as hcondels may be responsible for the anatomical and behavioral differences between humans chimpanzees and other varieties of mammals like ape or monkeys 12 recent comprehensive patient level classification and quantification of driver events in tcga cohorts revealed that there are on average 12 driver events per tumor of which 2 1 are deletions of tumor suppressors 13 detection edit the introduction of molecular techniques in conjunction with classical cytogenetic methods has in recent years greatly improved the diagnostic potential for chromosomal abnormalities in particular microarray comparative genomic hybridization cgh based on the use of bac clones promises a sensitive strategy for the detection of dna copy number changes on a genome wide scale the resolution of detection could be as high as 30 000 bands and the size of chromosomal deletion detected could as small as 5 20 kb in length 14 other computation methods were selected to discover dna sequencing deletion errors such as end sequence profiling 15 16 mitochondrial dna deletions edit in the yeast saccharomyces cerevisiae the nuclear genes rad51 p rad52 p and rad59p encode proteins that are necessary for recombinational repair and are employed in the repair of double strand breaks in mitochondrial dna 17 loss of these proteins decreases the rate of spontaneous dna deletion events in mitochondria 17 this finding implies that the repair of dna double strand breaks by homologous recombination is a step in the formation of mitochondrial dna deletions see also edit indel chromosome abnormalities null allele list of genetic disorders medical genetics microdeletion syndrome chromosomal deletion syndrome insertion genetics 10q26 deletion references edit 1 2 3 lewis r 2004 human genetics concepts and applications 6th ed mcgraw hill isbn 978 0 07 295174 5 klug william s 2015 concepts of genetics michael r cummings charlotte a spencer michael angelo palladino eleventh ed boston isbn 978 0 321 94891 5 oclc 880404074 cite book cs1 maint location missing publisher link banavali nilesh k 2013 partial base flipping is sufficient for strand slippage near dna duplex termini journal of the american chemical society 135 22 8274 8282 bibcode 2013jachs 135 8274b doi 10 1021 ja401573j pmid 23692220 banavali nilesh k 2013 analyzing the relationship between single base flipping and strand slippage near dna duplex termini the journal of physical chemistry b 117 46 14320 14328 doi 10 1021 jp408957c pmid 24206351 manjari swati r pata janice d banavali nilesh k 2014 cytosine unstacking and strand slippage at an insertion deletion mutation sequence in an overhang containing dna duplex biochemistry 53 23 3807 3816 doi 10 1021 bi500189g pmc 4063443 pmid 24854722 warrender jd moorman av lord p 2019 a fully computational and reasonable representation for karyotypes bioinformatics 35 24 5264 5270 doi 10 1093 bioinformatics btz440 pmc 6954653 pmid 31228194 cite journal cs1 maint multiple names authors list link this is an open access article distributed under the terms of the creative commons attribution license https creativecommons org licenses by 4 0 iscn symbols and abbreviated terms coriell institute for medical research retrieved 2022 10 27 lsdb controlled vocabulary terms archived 2011 10 06 at the wayback machine at the gen2phen knowledge centre posted fri 08 01 2010 mitchell richard sheppard kumar vinay robbins stanley l abbas abul k fausto nelson 2007 robbins basic pathology saunders elsevier isbn 978 1 4160 2973 1 srour myriam shevell michael 2015 01 01 chapter 14 global developmental delay and intellectual disability in rosenberg roger n pascual juan m eds rosenberg s molecular and genetic basis of neurological and psychiatric disease fifth edition boston academic press pp 151 161 isbn 978 0 12 410529 4 retrieved 2022 01 07 kalsner louisa chamberlain stormy j april 22 2015 prader willi angelman and 15q11 q13 duplication syndromes pediatric clinics of north america 62 3 587 606 doi 10 1016 j pcl 2015 03 004 issn 0031 3955 pmc 4449422 pmid 26022164 mclean cy reno pl pollen aa bassan ai capellini td guenther c indjeian vb lim x menke db schaar bt wenger am bejerano g kingsley dm march 2011 human specific loss of regulatory dna and the evolution of human specific traits nature 471 7337 216 9 bibcode 2011natur 471 216m doi 10 1038 nature09774 pmc 3071156 pmid 21390129 vyatkin alexey d otnyukov danila v leonov sergey v belikov aleksey v 14 january 2022 comprehensive patient level classification and quantification of driver events in tcga pancanatlas cohorts plos genetics 18 1 e1009996 doi 10 1371 journal pgen 1009996 pmc 8759692 pmid 35030162 ren h may 2005 bac based pcr fragment microarray high resolution detection of chromosomal deletion and duplication breakpoints human mutation 25 5 476 482 doi 10 1002 humu 20164 pmid 15832308 s2cid 28030180 shmilovici a ben gal i 2007 using a vom model for reconstructing potential coding regions in est sequences pdf journal of computational statistics 22 1 49 69 doi 10 1007 s00180 007 0021 8 s2cid 2737235 archived from the original pdf on 2020 05 31 retrieved 2014 01 10 volik s zhao s chin k brebner j h herndon d r tao q kowbel d huang g lapuk a kuo w l magrane g de jong p gray j w collins c 4 june 2003 end sequence profiling sequence based analysis of aberrant genomes proceedings of the national academy of sciences 100 13 7696 7701 bibcode 2003pnas 100 7696v doi 10 1073 pnas 1232418100 pmc 164650 pmid 12788976 1 2 ivanetich k m lucas s marsh j a ziman m r katz i d bradshaw j j 1978 organic compounds their interaction with and degradation of hepatic microsomal drug metabolizing enzymes in vitro drug metabolism and disposition the biological fate of chemicals 6 3 218 225 doi 10 1016 s0090 9556 25 06283 x pmid 26540 wikimedia commons has media related to deletion genetics v t e mutation mechanisms of mutation insertion deletion substitution transversion transition mutation with respect to structure point mutation nonsense mutation missense mutation conservative mutation silent mutation frameshift mutation dynamic mutation large scale mutation chromosomal translocations chromosomal inversions mutation with respect to overall fitness deleterious mutation advantageous mutation neutral mutation nearly neutral mutation synonymous mutation nonsynonymous mutation v t e chromosome abnormalities autosomal duplications including trisomies 1q21 1 duplication syndrome 2q31 1 microduplication trisomy 8 trisomy 9 tetrasomy 9p distal trisomy 10q patau syndrome 13 trisomy 16 16p11 2 duplication syndrome trisomy 18 down syndrome 21 22q11 2 duplication syndrome trisomy 22 cat eye syndrome 22 deletions 1q21 1 copy number variations 1q21 1 deletion syndrome 1q21 1 duplication syndrome tar syndrome 1p36 deletion syndrome 1 wolf hirschhorn syndrome 4 cri du chat syndrome chromosome 5q deletion syndrome 5 williams syndrome 7 jacobsen syndrome 11 miller dieker syndrome smith magenis syndrome 17q12 microdeletion syndrome 17 digeorge syndrome 22 22q11 2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting angelman syndrome prader willi syndrome 15 distal 18q proximal 18q x y linked monosomies turner syndrome 45 x trisomies tetrasomies other karyotypes mosaics klinefelter syndrome 47 xxy xxyy syndrome 48 xxyy xxyyy syndrome 49 xxyyy xxxy syndrome 48 xxxy xxxyy syndrome 49 xxxyy xxxxy syndrome 49 xxxxy trisomy x 47 xxx tetrasomy x 48 xxxx pentasomy x 49 xxxxx xyy syndrome 47 xyy xyyy syndrome 48 xyyy xyyyy syndrome 49 xyyyy 45 x 46 xy 46 xx 46 xy translocations leukemia lymphoma lymphoid burkitt lymphoma t 8 myc 14 igh follicular lymphoma t 14 igh 18 bcl2 mantle cell lymphoma multiple myeloma t 11 ccnd1 14 igh anaplastic large cell lymphoma t 2 alk 5 npm1 acute lymphoblastic leukemia myeloid philadelphia chromosome t 9 abl 22 bcr acute myeloblastic leukemia with maturation t 8 runx1t1 21 runx1 acute promyelocytic leukemia t 15 pml 17 rara acute megakaryoblastic leukemia t 1 rbm15 22 mrtfa other ewing sarcoma t 11 fli1 22 ews synovial sarcoma t x syt 18 ssx dermatofibrosarcoma protuberans t 17 col1a1 22 pdgfb myxoid liposarcoma t 12 ddit3 16 fus desmoplastic small round cell tumor t 11 wt1 22 ews alveolar rhabdomyosarcoma t 2 pax3 13 foxo1 t 1 pax7 13 foxo1 other fragile x syndrome uniparental disomy xx male syndrome 46 xx testicular disorders of sex development marker chromosome nullisomic ring chromosome 6 9 14 15 18 20 21 22 retrieved from https en wikipedia org w index php title deletion_ genetics oldid 1360647117 categories modification of genetic information mutation hidden categories articles with short description short description matches wikidata cs1 maint location missing publisher cs1 maint multiple names authors list webarchive template wayback links commons category link is on wikidata 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