KEGG DISEASE: 卵母細胞/受精卵/胚成熟停止

DISEASE: 卵母細胞/受精卵/胚成熟停止

エントリ

H01897

名称

卵母細胞/受精卵/胚成熟停止

下位グループ

卵母細胞の成熟異常 (OOMD)
着床前胚致死 [DS:H02335]

概要

Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead to infertility. Currently, several genes have been reported to be the causes of Oocyte/zygote/embryo maturation arrest (OZEMA).

カテゴリ

生殖器系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
16 泌尿生殖器系の疾患
  女性生殖器系の疾患
   GA31  女性不妊症
    H01897  卵母細胞/受精卵/胚成熟停止
パスウェイに基づく疾患分類 [BR:jp08402]
細胞プロセス
  nt06515  キネトコア-微小管相互作用の制御
   H01897  卵母細胞/受精卵/胚成熟停止
  nt06535  エフェロサイトーシス
   H01897  卵母細胞/受精卵/胚成熟停止
  nt06541  神経細胞の細胞骨格
   H01897  卵母細胞/受精卵/胚成熟停止

ネットワーク

nt06515 Regulation of kinetochore-microtubule interactions
nt06535 Efferocytosis
nt06541 Cytoskeleton in neurons

病因遺伝子

(OZEMA1) ZP1 [HSA:22917] [KO:K19926]
(OZEMA2) TUBB8 [HSA:347688] [KO:K07375]
(OZEMA3) ZP3 [HSA:7784] [KO:K19928]
(OZEMA4) PATL2 [HSA:197135] [KO:K24823]
(OZEMA5) WEE2 [HSA:494551] [KO:K06632]
(OZEMA6) ZP2 [HSA:7783] [KO:K19927]
(OZEMA7) PANX1 [HSA:24145] [KO:K03443]
(OZEMA8) BTG4 [HSA:54766] [KO:K14443]
(OZEMA9) TRIP13 [HSA:9319] [KO:K22399]
(OZEMA10) REC114 [HSA:283677] [KO:K26084]
(OZEMA11) ASTL [HSA:431705] [KO:K08778]
(OZEMA12) FBXO43 [HSA:286151] [KO:K10318]
(OZEMA13) ZFP36L2 [HSA:678] [KO:K18753]
(OZEMA14) CDC20 [HSA:991] [KO:K03363]
(OZEMA15) TLE6 [HSA:79816] [KO:K04497]
(OZEMA16) PADI6 [HSA:353238] [KO:K01481]
(OZEMA17) KPNA7 [HSA:402569] [KO:K15043]
(OZEMA18) NLRP2 [HSA:55655] [KO:K19409]
(OZEMA19) NLRP5 [HSA:126206] [KO:K22626]
(OZEMA20) MOS [HSA:4342] [KO:K04367]
(OZEMA21) CHEK1 [HSA:1111] [KO:K02216]
(OZEMA22) PABPC1L [HSA:80336] [KO:K13126]
(OZEMA23) TUBA4A [HSA:7277] [KO:K07374]
(OZEMA24) TUBA1C [HSA:84790] [KO:K07374]

リンク

ICD-11:

GA31.0Y

MeSH:

D007247

OMIM:

615774 616780 617712 617743 617996 618353 618550 619009 619011 619176 619643 619697 620154 620276 616814 617234 620319 620332 620333 620383 620610 621093 621231 621232

文献

PMID:33895934

著者

Sang Q, Zhou Z, Mu J, Wang L

タイトル

Genetic factors as potential molecular markers of human oocyte and embryo quality.

雑誌

J Assist Reprod Genet 38:993-1002 (2021)
DOI:10.1007/s10815-021-02196-z

文献

PMID:24670168 (OZEMA1)

著者

Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, Lu GX, Xiao HM

タイトル

Mutant ZP1 in familial infertility.

雑誌

N Engl J Med 370:1220-6 (2014)
DOI:10.1056/NEJMoa1308851

文献

PMID:26789871 (OZEMA2)

著者

Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L

タイトル

Mutations in TUBB8 and Human Oocyte Meiotic Arrest.

雑誌

N Engl J Med 374:223-32 (2016)
DOI:10.1056/NEJMoa1510791

文献

PMID:28886344 (OZEMA3)

著者

Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ

タイトル

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.

雑誌

Am J Hum Genet 101:459-465 (2017)
DOI:10.1016/j.ajhg.2017.08.001

文献

PMID:28965849 (OZEMA4)

著者

Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L

タイトル

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

雑誌

Am J Hum Genet 101:609-615 (2017)
DOI:10.1016/j.ajhg.2017.08.018

文献

PMID:29606300 (OZEMA5)

著者

Sang Q, Li B, Kuang Y, Wang X, Zhang Z, Chen B, Wu L, Lyu Q, Fu Y, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Wang L

タイトル

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.

雑誌

Am J Hum Genet 102:649-657 (2018)
DOI:10.1016/j.ajhg.2018.02.015

文献

PMID:29895852 (OZEMA6)

著者

Dai C, Hu L, Gong F, Tan Y, Cai S, Zhang S, Dai J, Lu C, Chen J, Chen Y, Lu G, Du J, Lin G

タイトル

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility.

雑誌

Genet Med 21:431-440 (2019)
DOI:10.1038/s41436-018-0064-y

文献

PMID:30918116 (OZEMA7)

著者

Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y, Wang L

タイトル

A pannexin 1 channelopathy causes human oocyte death.

雑誌

Sci Transl Med 11:eaav8731 (2019)
DOI:10.1126/scitranslmed.aav8731

文献

PMID:32502391 (OZEMA8)

著者

Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, Fan H, Wang L, Lin G, Sang Q

タイトル

Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility.

雑誌

Am J Hum Genet 107:24-33 (2020)
DOI:10.1016/j.ajhg.2020.05.010

文献

PMID:32473092 (OZEMA9)

著者

Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L

タイトル

Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.

雑誌

Am J Hum Genet 107:15-23 (2020)
DOI:10.1016/j.ajhg.2020.05.001

文献

PMID:31704776 (OZEMA10)

著者

Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L, Sang Q

タイトル

Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest.

雑誌

J Med Genet 57:187-194 (2020)
DOI:10.1136/jmedgenet-2019-106379

文献

PMID:34704130 (OZEMA11)

著者

Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS

タイトル

ASTL is mutated in female infertility.

雑誌

Hum Genet 10.1007/s00439-021-02388-8 (2021)
DOI:10.1007/s00439-021-02388-8

文献

PMID:34052850 (OZEMA12)

著者

Wang W, Wang W, Xu Y, Shi J, Fu J, Chen B, Mu J, Zhang Z, Zhao L, Lin J, Du J, Li Q, He L, Jin L, Sun X, Wang L, Sang Q

タイトル

FBXO43 variants in patients with female infertility characterized by early embryonic arrest.

雑誌

Hum Reprod 36:2392-2402 (2021)
DOI:10.1093/humrep/deab131

文献

PMID:34611029 (OZEMA13)

著者

Zheng W, Sha QQ, Hu H, Meng F, Zhou Q, Chen X, Zhang S, Gu Y, Yan X, Zhao L, Zong Y, Hu L, Gong F, Lu G, Fan HY, Lin G

タイトル

Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest.

雑誌

J Med Genet 59:850-857 (2022)
DOI:10.1136/jmedgenet-2021-107933

文献

PMID:34218387 (OZEMA14)

著者

Xu Y, Zhu X, Wang M, Cai L, Ge Q, Fu Y, Jin L

タイトル

The homozygous p.Tyr228Cys variant in CDC20 causes oocyte maturation arrest: an additional evidence supporting the causality between CDC20 mutation and female infertility.

雑誌

J Assist Reprod Genet 38:2219-2222 (2021)
DOI:10.1007/s10815-021-02269-z

文献

PMID:26537248 (OZEMA15)

著者

Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS

タイトル

TLE6 mutation causes the earliest known human embryonic lethality.

雑誌

Genome Biol 16:240 (2015)
DOI:10.1186/s13059-015-0792-0

文献

PMID:27545678 (OZEMA16)

著者

Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L

タイトル

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.

雑誌

Am J Hum Genet 99:744-752 (2016)
DOI:10.1016/j.ajhg.2016.06.024

文献

PMID:36647821 (OZEMA17)

著者

Wang W, Miyamoto Y, Chen B, Shi J, Diao F, Zheng W, Li Q, Yu L, Li L, Xu Y, Wu L, Mao X, Fu J, Li B, Yan Z, Shi R, Xue X, Mu J, Zhang Z, Wu T, Zhao L, Wang W, Zhou Z, Dong J, Li Q, Jin L, He L, Sun X, Lin G, Kuang Y, Wang L, Sang Q

タイトル

Karyopherin alpha deficiency contributes to human preimplantation embryo arrest.

雑誌

J Clin Invest 133:159951 (2023)
DOI:10.1172/JCI159951

文献

PMID:30877238 (OZEMA18_19)

著者

Mu J, Wang W, Chen B, Wu L, Li B, Mao X, Zhang Z, Fu J, Kuang Y, Sun X, Li Q, Jin L, He L, Sang Q, Wang L

タイトル

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.

雑誌

J Med Genet 56:471-480 (2019)
DOI:10.1136/jmedgenet-2018-105936

文献

PMID:35091966 (OZEMA19)

著者

Huang L, Wang Y, Lu F, Jin Q, Song G, Ji J, Luo L, Jin R, Tong X

タイトル

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.

雑誌

J Assist Reprod Genet 39:711-718 (2022)
DOI:10.1007/s10815-022-02412-4

文献

PMID:36403623 (OZEMA20)

著者

Jiao G, Lian H, Xing J, Chen L, Du Z, Liu X

タイトル

MOS mutation causes female infertility with large polar body oocytes.

雑誌

Gynecol Endocrinol 38:1158-1163 (2022)
DOI:10.1080/09513590.2022.2147158

文献

PMID:33953335 (OZEMA21)

著者

Zhang H, Chen T, Wu K, Hou Z, Zhao S, Zhang C, Gao Y, Gao M, Chen ZJ, Zhao H

タイトル

Dominant mutations in CHK1 cause pronuclear fusion failure and zygote arrest that can be rescued by CHK1 inhibitor.

雑誌

Cell Res 31:814-817 (2021)
DOI:10.1038/s41422-021-00507-8

文献

PMID:37052235 (OZEMA22)

著者

Wang W, Guo J, Shi J, Li Q, Chen B, Pan Z, Qu R, Fu J, Shi R, Xue X, Mu J, Zhang Z, Wu T, Wang W, Zhao L, Li Q, He L, Sun X, Sang Q, Lin G, Wang L

タイトル

Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.

雑誌

EMBO Mol Med 15:e17177 (2023)
DOI:10.15252/emmm.202217177

文献

PMID:37024973 (OZEMA23)

著者

Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L, Sang Q

タイトル

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

雑誌

Genome Biol 24:68 (2023)
DOI:10.1186/s13059-023-02894-0

文献

PMID:39209701 (OZEMA24)

著者

Hu H, Wan X, Zhang H, Sun J, Meng F, Zhang S, Gu Y, Gong F, Zhao H, Lin G, Zheng W

タイトル

Biallelic variants in alpha-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest.

雑誌

J Med Genet 61:1045-1052 (2024)
DOI:10.1136/jmg-2024-110163

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