The pachytene stage (/ˈpækɪtiːn/ PAK-i-teen; from Greek words meaning "thick threads".[1]: 27 ), also known as pachynema, is the third stage of prophase I during meiosis, the specialized cell division that reduces chromosome number by half to produce haploid gametes. It follows the zygotene stage.
Synapsed chromosomes
During pachytene, the homologous chromosomes are fully synapsed along their lengths by the completed synaptonemal complex protein structure formed in the previous stages. This holds the homologs closely paired, allowing intimate DNA interactions.[2]
Chromosome condensation
The chromosomes reach their highest level of condensation during pachytene. Each chromosome consists of two closely associated sister chromatids along their entire length. The chromosomes appear as distinct, well-defined threadlike structures under the microscope.[3][4] Sex chromosomes, however, are not wholly identical, and only exchange information over a small region of homology called the pseudoautosomal region.[5]
Recombination nodules
Multiple recombination nodules are distinctly visible along the paired homologous chromosomes. These proteinaceous structures mark the sites of genetic crossover events between the non-sister chromatids that were initiated during zygotene.[6]
Proteins like MLH1 and MLH3 stabilize the crossover events, ensuring at least one obligatory crossover per chromosome arm.[7] This gives each chromosome a minimum of two crossover sites. Additional crossovers are also possible but regulated.[8][9]
DNA repair
During pachytene, any unresolved DNA double-strand breaks from previous recombination events are repaired. Mismatch repair proteins help correct any errors in base pairing between the homologs.[10]
Treatment of male mice during meiosis with gamma radiation causes DNA damage[11]. Homologous recombination is the principal mechanism of DNA repair acting during meiosis. From the leptotene to early pachytene stages of meiosis exogenous damage triggered the massive presence of gamma H2AX (which forms when DNA double-strand breaks appear), H2AX was present throughout the nucleus, and this was associated with DNA repair mediated by homologous recombination components DMC1 and RAD51 proteins[11].
The meiotic sex checkpoint
Pachytene is also a stage where a critical checkpoint operates to monitor proper chromosome synapsis and recombination. Errors detected at this stage can arrest the meiotic cell cycle and trigger apoptosis (programmed cell death) of the defective cell.[12]
Transition to diplotene
Once crossover events are stabilized, the synaptonemal complex disassembles and chromosomes begin to gradually desynapse as the cell transitions into the diplotene stage.
Importance
The pachytene stage is essential for the extensive genetic recombination and accurate chromosome segregation in meiosis. Defects at this stage can lead to aneuploidy and nondisjunction.[13]
References
- ^ Snustad DP, Simmons MJ (December 2008). Principles of Genetics (5th ed.). Wiley. ISBN 978-0-470-38825-9.
- ^ Chua, Penelope R; Roeder, G.Shirleen (May 1998). "Zip2, a Meiosis-Specific Protein Required for the Initiation of Chromosome Synapsis". Cell. 93 (3): 349–359. doi:10.1016/S0092-8674(00)81164-2. PMID 9590170.
- ^ Klein, Franz; Mahr, Peter; Galova, Marta; Buonomo, Sara B.C.; Michaelis, Christine; Nairz, Knud; Nasmyth, Kim (July 1999). "A Central Role for Cohesins in Sister Chromatid Cohesion, Formation of Axial Elements, and Recombination during Yeast Meiosis". Cell. 98 (1): 91–103. doi:10.1016/S0092-8674(00)80609-1. PMID 10412984.
- ^ Chan, Raymond C.; Severson, Aaron F.; Meyer, Barbara J. (22 November 2004). "Condensin restructures chromosomes in preparation for meiotic divisions". The Journal of Cell Biology. 167 (4): 613–625. doi:10.1083/jcb.200408061. PMC 2172564. PMID 15557118.
- ^ Hinch AG, Altemose N, Noor N, Donnelly P, Myers SR (July 2014). "Recombination in the human Pseudoautosomal region PAR1". PLOS Genetics. 10 (7): e1004503. doi:10.1371/journal.pgen.1004503. PMC 4102438. PMID 25033397.
- ^ Zickler D, Kleckner N (May 2015). "Recombination, Pairing, and Synapsis of Homologs during Meiosis". Cold Spring Harbor Perspectives in Biology. 7 (6): a016626. doi:10.1101/cshperspect.a016626. PMC 4448610. PMID 25986558.
- ^ Brown, Megan Sonntag; Lim, Elisha; Chen, Cheng; Nishant, K T; Alani, Eric (2013). "Genetic Analysis of mlh3 Mutations Reveals Interactions Between Crossover Promoting Factors During Meiosis in Baker's Yeast". G3 Genes|Genomes|Genetics. 3 (1): 9–22. doi:10.1534/g3.112.004622. PMC 3538346. PMID 23316435.
- ^ Chen JM, Cooper DN, Chuzhanova N, Férec C, Patrinos GP (October 2007). "Gene conversion: mechanisms, evolution and human disease". Nature Reviews. Genetics. 8 (10): 762–75. doi:10.1038/nrg2193. PMID 17846636. S2CID 205484180.
- ^ Golubovskaya, Inna N.; Wang, C. J. Rachel; Timofejeva, Ljudmilla; Cande, W. Zacheus (March 2011). "Maize meiotic mutants with improper or non-homologous synapsis due to problems in pairing or synaptonemal complex formation". Journal of Experimental Botany. 62 (5): 1533–1544. doi:10.1093/jxb/erq292. PMC 3107535. PMID 20926553.
- ^ Bolcun-Filas E, Handel MA (July 2018). "Meiosis: the chromosomal foundation of reproduction". Biology of Reproduction. 99 (1): 112–126. doi:10.1093/biolre/ioy021. PMID 29385397. S2CID 38589675.
- ^ a b Enguita-Marruedo A, Martín-Ruiz M, García E, Gil-Fernández A, Parra MT, Viera A, Rufas JS, Page J. Transition from a meiotic to a somatic-like DNA damage response during the pachytene stage in mouse meiosis. PLoS Genet. 2019 Jan 22;15(1):e1007439. doi: 10.1371/journal.pgen.1007439. PMID: 30668564; PMCID: PMC6358097
- ^ Foe, VE (2022). "Does the Pachytene Checkpoint, a Feature of Meiosis, Filter Out Mistakes in Double-Strand DNA Break Repair and as a side-Effect Strongly Promote Adaptive Speciation?". Integrative Organismal Biology. 4 (1): obac008. doi:10.1093/iob/obac008. PMC 8998493. PMID 36827645.
- ^ Bolcun-Filas E, Handel MA (July 2018). "Meiosis: the chromosomal foundation of reproduction". Biology of Reproduction. 99 (1): 112–126. doi:10.1093/biolre/ioy021. PMID 29385397. S2CID 38589675.
This page was last edited on 14 April 2024, at 21:21