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Recombination rate quantitative trait locus 1(RRQTL1)

MedGen UID:
394320
Concept ID:
C2677576
Finding
Synonym: RRQTL1
 
Gene (location): RNF212 (4p16.3)
 
OMIM®: 612042

Definition

Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Linkage disequilibrium (LD) and sperm typing studies suggested that recombination rates vary tremendously across the human genome, with most events occurring in narrow hotspots (Coop et al., 2008). To examine variation in fine-scale recombination patterns among individuals, Coop et al. (2008) used dense genomewide nucleotide polymorphism data collected in nuclear families to localize crossovers with high spatial resolution. This analysis revealed that overall recombination hotspot usage is similar in males and females, with individual hotspots often active in both sexes. Across the genome, roughly 60% of crossovers occurred in hotspots inferred from LD studies (on chromosomes 17, 19, 10, and 11). Notably, however, Coop et al. (2008) found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots. [from OMIM]

Recent clinical studies

Etiology

Perisic Matic L, Rykaczewska U, Razuvaev A, Sabater-Lleal M, Lengquist M, Miller CL, Ericsson I, Röhl S, Kronqvist M, Aldi S, Magné J, Paloschi V, Vesterlund M, Li Y, Jin H, Diez MG, Roy J, Baldassarre D, Veglia F, Humphries SE, de Faire U, Tremoli E, Odeberg J, Vukojević V, Lehtiö J, Maegdefessel L, Ehrenborg E, Paulsson-Berne G, Hansson GK, Lindeman JH, Eriksson P, Quertermous T, Hamsten A, Hedin U
Arterioscler Thromb Vasc Biol 2016 Sep;36(9):1947-61. Epub 2016 Jul 28 doi: 10.1161/ATVBAHA.116.307893. PMID: 27470516Free PMC Article
Koutnikova H, Laakso M, Lu L, Combe R, Paananen J, Kuulasmaa T, Kuusisto J, Häring HU, Hansen T, Pedersen O, Smith U, Hanefeld M, Williams RW, Auwerx J
PLoS Genet 2009 Aug;5(8):e1000591. Epub 2009 Aug 7 doi: 10.1371/journal.pgen.1000591. PMID: 19662162Free PMC Article

Diagnosis

Perisic Matic L, Rykaczewska U, Razuvaev A, Sabater-Lleal M, Lengquist M, Miller CL, Ericsson I, Röhl S, Kronqvist M, Aldi S, Magné J, Paloschi V, Vesterlund M, Li Y, Jin H, Diez MG, Roy J, Baldassarre D, Veglia F, Humphries SE, de Faire U, Tremoli E, Odeberg J, Vukojević V, Lehtiö J, Maegdefessel L, Ehrenborg E, Paulsson-Berne G, Hansson GK, Lindeman JH, Eriksson P, Quertermous T, Hamsten A, Hedin U
Arterioscler Thromb Vasc Biol 2016 Sep;36(9):1947-61. Epub 2016 Jul 28 doi: 10.1161/ATVBAHA.116.307893. PMID: 27470516Free PMC Article

Therapy

Forni D, Mozzi A, Pontremoli C, Vertemara J, Pozzoli U, Biasin M, Bresolin N, Clerici M, Cagliani R, Sironi M
RNA Biol 2015;12(2):149-61. doi: 10.1080/15476286.2015.1017215. PMID: 25826567Free PMC Article

Prognosis

Liu Y, Sarkar A, Kheradpour P, Ernst J, Kellis M
Genome Biol 2017 Oct 20;18(1):193. doi: 10.1186/s13059-017-1308-x. PMID: 29058599Free PMC Article

Clinical prediction guides

Liu Y, Sarkar A, Kheradpour P, Ernst J, Kellis M
Genome Biol 2017 Oct 20;18(1):193. doi: 10.1186/s13059-017-1308-x. PMID: 29058599Free PMC Article
Forni D, Mozzi A, Pontremoli C, Vertemara J, Pozzoli U, Biasin M, Bresolin N, Clerici M, Cagliani R, Sironi M
RNA Biol 2015;12(2):149-61. doi: 10.1080/15476286.2015.1017215. PMID: 25826567Free PMC Article
Hashimoto R, Voigt B, Ishimaru Y, Hokao R, Chiba S, Serikawa T, Sasa M, Kuramoto T
Exp Anim 2013;62(3):181-7. doi: 10.1538/expanim.62.181. PMID: 23903052Free PMC Article
Ma J, Iannuccelli N, Duan Y, Huang W, Guo B, Riquet J, Huang L, Milan D
BMC Genomics 2010 Mar 9;11:159. doi: 10.1186/1471-2164-11-159. PMID: 20211033Free PMC Article

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