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ZJUS-B
Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology)  2016, Vol. 17 Issue (1): 10-20    DOI: 10.1631/jzus.B1500162
review     
Impact of DNA mismatch repair system alterations on human fertility and related treatments
Min-hao Hu,Shu-yuan Liu,Ning Wang,Yan Wu,Fan Jin()
Key Laboratory of Reproductive Genetics (Zhejiang), Ministry of Education, and Centre of Reproductive Medicine, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China
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Abstract  

DNA mismatch repair (MMR) is one of the biological pathways, which plays a critical role in DNA homeostasis, primarily by repairing base-pair mismatches and insertion/deletion loops that occur during DNA replication. MMR also takes part in other metabolic pathways and regulates cell cycle arrest. Defects in MMR are associated with genomic instability, predisposition to certain types of cancers and resistance to certain therapeutic drugs. Moreover, genetic and epigenetic alterations in the MMR system demonstrate a significant relationship with human fertility and related treatments, which helps us to understand the etiology and susceptibility of human infertility. Alterations in the MMR system may also influence the health of offspring conceived by assisted reproductive technology in humans. However, further studies are needed to explore the specific mechanisms by which the MMR system may affect human infertility. This review addresses the physiological mechanisms of the MMR system and associations between alterations of the MMR system and human fertility and related treatments, and potential effects on the next generation.

Key words： DNA mismatch repair      Infertility      Assisted reproductive technology     
Received: 28 June 2015      Published: 01 January 2016
Fund:  Project supported by the National Basic Research Programs (973) of China(Nos. 2012CB944901, 2014CB943302);the National Natural Science Foundation of China(Nos. 81200475, 81370760, 81571500);the Zhejiang Provincial Natural Science Foundation of China(No. LZ13H040001)
Corresponding Authors: Fan Jin     E-mail: jinfan@zju.edu.cn
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Min-hao Hu,Shu-yuan Liu,Ning Wang,Yan Wu,Fan Jin. Impact of DNA mismatch repair system alterations on human fertility and related treatments. Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology), 2016, 17(1): 10-20.

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http://www.zjujournals.com/xueshu/zjus-b/10.1631/jzus.B1500162     OR     http://www.zjujournals.com/xueshu/zjus-b/Y2016/V17/I1/10

MMR components Fuction
MutSα (MSH2-MSH6) MutSβ (MSH2-MSH3) DNA mismatch recognition
MutLα (MLH1-PMS2) MutLβ (MLH1-PMS1) MutLΓ (MLH1-MLH3) Molecular matchmaker; recruitment of other related proteins
EXO1 DNA mismatch excision
Polδ DNA re-synthesis
PCNA Initiation of DNA re-synthesis
RFC Loading and unloading PCNA
RPA Single strand DNA protection; termination of DNA excision
DNA ligase I Nick ligation
Other members unidentified
Table 1 Human MMR components and functions
Gene Phenotype
MSH4 Infertile: failure of spermatogonial maturation beyond zygonema
MSH5 Infertile: incomplete and non-homologous chromosomal pairing
MLH1 Infertile: failure of crossing over
PMS2 Male infertile: disruption of normal chromosomal synapsis
MLH3 Infertile
EXO1 Infertile
Table 2 MMR genes involved in mouse infertility models
Fig. 1 Proposed function model of MutS and MutL in relation to TNR instability TNR-related hairpin structure occurring during DNA replication is initially recognized by the MutSβ complex, and then the MutL complex is recruited. Various pathways including canonical MMR and noncanonical MMR (ncMMR) may be engaged, leading to different outcomes of TNR instability: DNA damage repaired in time or otherwise, eventual TNR mutation
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