関: chromosome inversion

WordNet

a chemical process in which the direction of optical rotation of a substance is reversed from dextrorotatory to levorotary or vice versa
abnormal condition in which an organ is turned inward or inside out (as when the upper part of the uterus is pulled into the cervical canal after childbirth)
the layer of air near the earth is cooler than an overlying layer
the act of turning inside out (同)eversion, everting
a term formerly used to mean taking on the gender role of the opposite sex (同)sexual_inversion
turning upside down; setting on end (同)upending
(counterpoint) a variation of a melody or part in which ascending intervals are replaced by descending intervals and vice versa
(genetics) a kind of mutation in which the order of the genes in a section of a chromosome is reversed
of or relating to a chromosome; "chromosomal defect"

PrepTutorEJDIC

反対,転倒 / (文法で)倒置[法]

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/02/29 21:04:15」(JST)

wiki en

[Wiki en表示]

A clay model showing why heterozygous inversion loops are visible in polytene chromosome preparations

An inversion loop in the A arm of a chromosome from an Axarus species midge

An inversion is a chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: paracentric and pericentric.

Paracentric inversions do not include the centromere and both breaks occur in one arm of the chromosome. Pericentric inversions include the centromere and there is a break point in each arm.

Cytogenetic techniques may be able to detect inversions, or inversions may be inferred from genetic analysis. Nevertheless, in most species small inversions go undetected. In insects with polytene chromosomes, for example Drosophila, preparations of larval salivary gland chromosomes allow inversions to be seen when they are heterozygous. This useful characteristic of polytene chromosomes was first advertised by Theophilus Shickel Painter in 1933.^[1]

Inversions usually do not cause any abnormalities in carriers as long as the rearrangement is balanced with no extra or missing DNA. However, in individuals which are heterozygous for an inversion, there is an increased production of abnormal chromatids (this occurs when crossing-over occurs within the span of the inversion). This leads to lowered fertility due to production of unbalanced gametes.

The most common inversion seen in humans is on chromosome 9, at inv(9)(p12q13). This inversion is generally considered to have no harmful effects, but there is some suspicion it could lead to an increased risk for miscarriage or infertility for some affected individuals.^{[citation needed]}

An inversion does not involve a loss of genetic information, but simply rearranges the linear gene sequence.

Families that may be carriers of inversions may be offered genetic counseling and genetic testing.^[2]

References

^ Painter TS (1933). "A new method for the study of chromosome rearrangements and the plotting of chromosome maps". Science 78 (2034): 585–6. doi:10.1126/science.78.2034.585. PMID 17801695.
^ Gardner, R.J.M; Sutherland, Grant R.; Shaffer, Lisa G. (2011). "9 Inversions". Chromosome Abnormalities and Genetic Counseling (4th ed.). Oxford University Press. pp. 161–182. ISBN 978-0-19-974915-7.

Lehtonen S, Myllys L, Huttunen S (2009). "Phylogenetic analysis of non-coding plastid DNAthtjtdjj in the presence of short inversions" (PDF-preview). Phytotaxa 1: 3–20. doi:10.11646/phytotaxa.1.1.2.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
2. 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
3. 急性骨髄性白血病における細胞遺伝学 cytogenetics in acute myeloid leukemia
4. 骨髄異形成症候群における細胞遺伝学および分子遺伝学 cytogenetics and molecular genetics of myelodysplastic syndromes
5. 急性リンパ芽球性白血病における細胞遺伝学 cytogenetics in acute lymphoblastic leukemia

English Journal

Linkage disequilibrium network analysis (LDna) gives a global view of chromosomal inversions, local adaptation and geographic structure.

Kemppainen P1,2, Knight CG1, Sarma DK1,3, Hlaing T4, Prakash A3, Maung Maung YN4, Somboon P5, Mahanta J3, Walton C1.
Molecular ecology resources.Mol Ecol Resour.2015 Sep;15(5):1031-45. doi: 10.1111/1755-0998.12369. Epub 2015 Jan 21.
Recent advances in sequencing allow population-genomic data to be generated for virtually any species. However, approaches to analyse such data lag behind the ability to generate it, particularly in nonmodel species. Linkage disequilibrium (LD, the nonrandom association of alleles from different loc
PMID 25573196

CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function.

Guo Y1, Xu Q1, Canzio D2, Shou J1, Li J1, Gorkin DU3, Jung I3, Wu H1, Zhai Y1, Tang Y1, Lu Y1, Wu Y1, Jia Z1, Li W1, Zhang MQ4, Ren B3, Krainer AR5, Maniatis T6, Wu Q7.
Cell.Cell.2015 Aug 13;162(4):900-10. doi: 10.1016/j.cell.2015.07.038.
CTCF and the associated cohesin complex play a central role in insulator function and higher-order chromatin organization of mammalian genomes. Recent studies identified a correlation between the orientation of CTCF-binding sites (CBSs) and chromatin loops. To test the functional significance of thi
PMID 26276636

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Vieira JP1, Lopes F2, Silva-Fernandes A2, Sousa MV1, Moura S2, Sousa S2, Costa BM2, Barbosa M3, Ylstra B4, Temudo T5, Lourenço T1, Maciel P6.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.Int J Dev Neurosci.2015 Aug 10. pii: S0736-5748(15)30027-7. doi: 10.1016/j.ijdevneu.2015.07.010. [Epub ahead of print]
Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cy
PMID 26287660

Japanese Journal

Gamma Ray and Ethyl Methane Sulphonate Induced Translocation and Inversion Heterozygote in Lens culinaris Medik (Lentil)

Goyal Sapna,Verma Rakesh Chandra
CYTOLOGIA 80(2), 231-235, 2015
… Two plants, one translocation heterozygote and one inversion heterozygote, were isolated from the population raised from 10 kR gamma ray-irradiated seeds and 0.2% EMS-treated seeds, respectively. … The mutant plants displayed various types of chromosomal configurations at diakinesis/metaphase I, and anaphase/telophase I/II in meiosis. …
NAID 130005074301

The EML4-ALK oncogene: targeting an essential growth driver in human cancer

MANO Hiroyuki
Proceedings of the Japan Academy, Series B 91(5), 193-201, 2015
… A small chromosomal inversion thus leads to fusion of the amino-terminal portion of the microtubule-associated protein EML4 to the intracellular kinase domain of ALK, a receptor-type protein tyrosine kinase. …
NAID 130005067231