WordNet

the act of deleting something written or printed
the omission that is made when an editorial change shortens a written passage; "an editors deletions frequently upset young authors"; "both parties agreed on the excision of the proposed clause" (同)excision, cut
(genetics) the loss or absence of one or more nucleotides from a chromosome
of or relating to a chromosome; "chromosomal defect"

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削除;〈C〉削除箇所

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/02/11 12:28:14」(JST)

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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 missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome.^[1] Deletions can be caused by errors in chromosomal crossover during meiosis. This causes several serious genetic diseases. Deletion also causes frameshift.

Causes[edit]

Causes include the following:

Losses from translocation
Chromosomal crossovers within a chromosomal inversion
Unequal crossing over
Breaking without rejoining

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.

Types[edit]

Types of deletion include the following:

'Terminal Deletion' - a deletion that occurs towards the end of a chromosome.
Intercalary Deletion / 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).

Microdeletion is usually found in children with physical abnormalities. A large amount of deletion would result in immediate abortion (miscarriage).

Effects[edit]

It could affect eye sight, smell, skin tone or loss of weight.

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.^[2]

Deletions are responsible for an array of genetic disorders, including some cases of male infertility and two thirds of cases of Duchenne muscular dystrophy.^[1] 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.

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 are referred to as hCONDELs may be responsible for the anatomical and behavioral differences between humans,chimpanzees and other mammals.^[3]

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 as high as >30,000 "bands" and the size of chromosomal deletion detected could as small as 5–20 kb in length.^[4] Other computation methods were selected to discover DNA sequencing deletion errors.^[5] [1]

References[edit]

^ ^a ^b ^c Lewis R. 2005. Human Genetics: Concepts and Applications, 6th Ed. McGraw Hill, New York.
^ LSDB - Controlled vocabulary terms at The GEN2PHEN Knowledge Centre. Posted Fri, 08/01/2010.
^ Delete edit
^ Ren, H (May 2005). "BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints". Human Mutations 25 (5): 476–482. doi:10.1002/humu.20164. PMID 15832308.
^ Shmilovici A. and Ben-Gal I. (2007). Using a VOM Model for Reconstructing Potential Coding Regions in EST Sequences,. Journal of Computational Statistics, vol. 22, no. 1, 49 - 69.

UpToDate Contents

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1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
2. 微細欠失症候群（1番～11番染色体） microdeletion syndromes chromosomes 1 to 11
3. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
4. 血液悪性腫瘍における細胞遺伝子解析の一般的側面 general aspects of cytogenetic analysis in hematologic malignancies
5. 急性骨髄性白血病における細胞遺伝学 cytogenetics in acute myeloid leukemia

English Journal

Sexual dimorphic effect in the genetic association of monoamine oxidase A (MAOA) markers with autism spectrum disorder.

Verma D1, Chakraborti B1, Karmakar A1, Bandyopadhyay T1, Singh AS1, Sinha S2, Chatterjee A2, Ghosh S3, Mohanakumar KP4, Mukhopadhyay K1, Rajamma U5.Author information 1Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra, 482 Madudah, Plot I-24, Sector-J, EM Bypass, Kolkata, West Bengal, India.2Out-Patients Department, Manovikas Kendra, 482 Madudah, Plot I-24, Sector-J, EM Bypass, Kolkata, West Bengal, India.3Human Genetics Unit, Indian Statistical Institute, 203 BT Road, Kolkata, West Bengal, India.4Lab of Clinical & Experimental Neurosciences, Cell Biology & Physiology Division, CSIR-Indian Institute of Chemical Biology, 4 Raja S C Mullick Road, Jadavpur, Kolkata, West Bengal, India.5Manovikas Biomedical Research & Diagnostic Centre, Manovikas Kendra, 482 Madudah, Plot I-24, Sector-J, EM Bypass, Kolkata, West Bengal, India. Electronic address: ushamvk@yahoo.co.in.AbstractAutism spectrum disorders are heritable and behaviorally-defined neurodevelopmental disorders having skewed sex ratio. Serotonin as modulator of behavior and implication of serotonergic dysfunction in ASD etiology corroborates that serotonergic system genes are potential candidates for autism susceptibility. In the current study X-chromosomal gene, MAOA responsible for degradation of serotonin is investigated for possible association with ASD using population-based approach. Study covers analysis of 8 markers in 421 subjects including cases and ethnically-matched controls from West Bengal. MAOA marker, rs6323 and various haplotypes formed between the markers show significant association with the disorder. Stratification on the basis of sex reveals significant genetic effect of rs6323 with low activity T allele posing higher risk in males, but not in females. Haplotypic association results also show differential effect both in males and females. Contrasting linkage disequilibrium pattern between pair of markers involving rs6323 in male cases and controls further supports the sex-bias in genetic association. Bioinformatic analysis shows presence of Y-encoded SRY transcription factor binding sites in the neighborhood of rs1137070. C allele of rs1137070 causes deletion of GATA-2 binding site and GATA-2 is known to interact with SRY. This is the first study highlighting male-specific effect of rs6323 marker and its haplotypes in ASD etiology and it suggests sexual dimorphic effect of MAOA in this disorder. Overall results of this study identify MAOA as a possible ASD susceptibility locus and the differential genetic effect in males and females might contribute to the sex ratio differences and molecular pathology of the disorder.
Progress in neuro-psychopharmacology & biological psychiatry.Prog Neuropsychopharmacol Biol Psychiatry.2014 Apr 3;50:11-20. doi: 10.1016/j.pnpbp.2013.11.010. Epub 2013 Nov 28.
Autism spectrum disorders are heritable and behaviorally-defined neurodevelopmental disorders having skewed sex ratio. Serotonin as modulator of behavior and implication of serotonergic dysfunction in ASD etiology corroborates that serotonergic system genes are potential candidates for autism suscep
PMID 24291416

Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.

Park CH1, Kim HJ1, Lee ST1, Seo JM2, Kim SH3.Author information 1Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.2Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.3Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: sunnyhk@skku.edu.AbstractTrisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects. Here we report a case of near-complete T17P of which the genomic dosage aberrations were delineated by chromosomal microarray along with conventional diagnostic modalities. A 9-year-old Korean boy was admitted because of esophageal obstruction. He showed clinical manifestations of T17P, along with atypical features of scoliosis, corpus callosum agenesis, and seizure. Chromosome analyses revealed an inverted duplication of the chromosomal segment between 17p11.2 and 17p13.3. Chromosomal microarray revealed a duplication of the most of the short arm of chromosome 17 (size ~19.09Mb) along with a cryptic deletion of a small segment of 17p terminal end (17pter) (~261 Kb). This is the first report of molecular characterization of near-complete T17P from inverted duplication in association with 17pter microdeletion. The fine delineation of the extent of genomic aberration by SNP-based microarray could help us better understand the molecular mechanism and genotype-phenotype correlations in T17P syndrome.
Gene.Gene.2014 Mar 10;537(2):343-7. doi: 10.1016/j.gene.2013.12.056. Epub 2014 Jan 4.
Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects. Here we report a case of near-complete T17P of which the genomic dosage aberrations were d
PMID 24393711

22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.

Wang Y1, Yu Y2, Hu X3, Li B3, Qian J4.Author information 1Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address: ywang_picu@shsmu.edu.cn.2Department of Internal Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina.3Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina.4Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address: 18918831463@189.cn.AbstractBACKGROUND: The chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Here we present a 3-month-old girl with both 22q11.2 microduplication and 19p13.12-13.13 deletion. The presence of both genomic imbalances in one patient has not been previously reported in literature.
Gene.Gene.2014 Mar 1;537(1):164-8. doi: 10.1016/j.gene.2013.11.082. Epub 2013 Dec 17.
BACKGROUND: The chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Here we present a 3-month-old girl with both 22q11.2 microduplication and 19p13.12-13.13 deletion. The presence of both genomic imbalances in one patient has not been previously report
PMID 24361202

Japanese Journal

Telomere-mediated chromosomal truncation in Aspergillus oryzae(GENETICS, MOLECULAR BIOLOGY, AND GENE ENGINEERING)

Tada Sawaki,Ohkuchi Hikaru,Matsushita-Morita Mayumi [他],Furukawa Ikuyo,Hattori Ryota,Suzuki Satoshi,Kashiwagi Yutaka,Kusumoto Ken-Ichi
Journal of bioscience and bioengineering 119(1), 43-46, 2015-01
… The predicted deletion was confirmed by Southern blot analyses. … This telomeremediated chromosomal truncation method enables the development of an artificial chromosome in A. …
NAID 110009892231

リングY染色体と考えられた染色体異常を有する無精子症患者の1例

黒田晋之介,湯村寧,浜之上はるか,保田賢吾,山中弘行,三條博之,竹島徹平,小林将貴,加藤喜健,岩崎晧,野口和美
泌尿器科紀要 = Acta urologica Japonica 60(11), 583-586, 2014-11
… Y chromosome microdeletion analysis showed partial deletion of Azoospermic Factor (AZF) a, and complete deletion of AZFb and AZFc. …
NAID 120005521617

カルバペネム非感性かつ広域セフェム耐性腸内細菌科菌種におけるβ-lactamaseの鑑別

北仲博光,和知野純一,荒川宜親
医学検査 63(4), 479-485, 2014
近年，カルバペネム耐性の腸内細菌科菌種（CRE）の存在が，日常の臨床現場において問題となっており，カルバペネム耐性の表現型に基づいたCREの分子機構の解明は極めて困難となりつつある．本研究では，カルバペネム非感性又はセフェム耐性を示すEscherichia coli 3株（NUBL-5310，NUBL-5317及びNUBL-9600），Klebsiella pneumoniae 2株（NUBL-5 …
NAID 130004690645