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Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W. Shen Y, et al. Nat Commun. 2019 Jan 25;10(1):433. doi: 10.1038/s41467-018-08182-x. Nat Commun. 2019. PMID: 30683861 Free PMC article.
Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. ...Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is esse …
Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. ...Our findi …
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK. Malcher A, et al. Andrology. 2022 Nov;10(8):1605-1624. doi: 10.1111/andr.13269. Epub 2022 Sep 7. Andrology. 2022. PMID: 36017582 Free PMC article.
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, TEX13A, TEX14, DNAH1, FANCM, QRICH2, FSIP2, USP9Y, PMFBP1, MEI1, PIWIL1, WDR66, ZFX, KCND1, KIAA1210, DHRSX, ZMYM3, FAM47C, FANCB, FAM …
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, T …
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
Kherraf ZE, Cazin C, Coutton C, Amiri-Yekta A, Martinez G, Boguenet M, Fourati Ben Mustapha S, Kharouf M, Gourabi H, Hosseini SH, Daneshipour A, Touré A, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF. Kherraf ZE, et al. Clin Genet. 2019 Nov;96(5):394-401. doi: 10.1111/cge.13604. Epub 2019 Jul 17. Clin Genet. 2019. PMID: 31292949
Here, in order to better assess the contribution of QRICH2 in the etiology of the MMAF phenotype, we analyzed all QRICH2 variants from whole exome sequencing data of a cohort of 167 MMAF-affected subjects originating from North Africa, Iran, and Europe. ...Two unrel …
Here, in order to better assess the contribution of QRICH2 in the etiology of the MMAF phenotype, we analyzed all QRICH2 varia …
Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.
Dang Do AN, Sleat DE, Campbell K, Johnson NL, Zheng H, Wassif CA, Dale RK, Porter FD. Dang Do AN, et al. J Proteome Res. 2023 Jul 7;22(7):2493-2508. doi: 10.1021/acs.jproteome.3c00199. Epub 2023 Jun 20. J Proteome Res. 2023. PMID: 37338096
Some of these (NEFL, CHIT1) have been previously linked with other neurologic conditions. Others (CLPS, FAM217B, QRICH2, KRT16, ZNF333) appear to be novel. Both methods identified 25 candidate biomarkers, including CHIT1, NELL1, and ISLR2 which had absolute fold-change rat …
Some of these (NEFL, CHIT1) have been previously linked with other neurologic conditions. Others (CLPS, FAM217B, QRICH2, KRT16, ZNF33 …
A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities.
Hiltpold M, Janett F, Mapel XM, Kadri NK, Fang ZH, Schwarzenbacher H, Seefried FR, Spengeler M, Witschi U, Pausch H. Hiltpold M, et al. Genet Sel Evol. 2022 Mar 7;54(1):18. doi: 10.1186/s12711-022-00710-0. Genet Sel Evol. 2022. PMID: 35255804 Free PMC article.
Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. ...CONCLUSIONS: A recessive loss …
Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of t …
Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
Zhang G, Li D, Tu C, Meng L, Tan Y, Ji Z, Cheng J, Lu G, Lin G, Zhang H, Sun J, Wang M, Du J, Xu W. Zhang G, et al. Hum Mol Genet. 2021 Dec 27;31(2):219-231. doi: 10.1093/hmg/ddab234. Hum Mol Genet. 2021. PMID: 34415320
In addition, the co-localization and interaction between AKAP4 and glutamine-rich protein 2 (QRICH2) on the molecular level were identified by immunofluorescence and co-immunoprecipitation (CO-IP). The hemizygous c.1285C > T variant in AKAP4 induced decreased protein ex …
In addition, the co-localization and interaction between AKAP4 and glutamine-rich protein 2 (QRICH2) on the molecular level were iden …
CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men.
Jin HJ, Wang JL, Geng XY, Wang CY, Wang BB, Chen SR. Jin HJ, et al. EBioMedicine. 2023 Jul;93:104675. doi: 10.1016/j.ebiom.2023.104675. Epub 2023 Jun 21. EBioMedicine. 2023. PMID: 37352829 Free PMC article.
CFAP70 is required for the biogenesis of spermatid flagella partially by regulating the expression of OAT-associated proteins (e.g., QRICH2), assisting the cytoplasmic preassembly of the calmodulin- and radial spoke-associated complex (CSC), and controlling the manchette l …
CFAP70 is required for the biogenesis of spermatid flagella partially by regulating the expression of OAT-associated proteins (e.g., QRIC …
Metabolic profiling identifies Qrich2 as a novel glutamine sensor that regulates microtubule glutamylation and mitochondrial function in mouse sperm.
Zhang G, Guo J, Yang H, Li Q, Ye F, Song Y, Xiong D, Zeng J, Zhi W, Yuan S, Lv Y, Li T, Wang Y, Liao L, Deng D, Liu W, Xu W. Zhang G, et al. Cell Mol Life Sci. 2024 Apr 10;81(1):170. doi: 10.1007/s00018-024-05177-4. Cell Mol Life Sci. 2024. PMID: 38597976 Free PMC article.
Abnormal glutamylation levels of tubulin cause dysplastic microtubules and flagella, eventually resulting in the decline of sperm motility and male infertility. In the current study, by further analyzing the Qrich2 KO mouse sperm, we found a reduced glutamylation level and …
Abnormal glutamylation levels of tubulin cause dysplastic microtubules and flagella, eventually resulting in the decline of sperm motility a …
Author Correction: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W. Shen Y, et al. Nat Commun. 2019 May 20;10(1):2289. doi: 10.1038/s41467-019-10313-x. Nat Commun. 2019. PMID: 31110204 Free PMC article.
Further Insights on RNA Expression and Sperm Motility.
Silva C, Viana P, Barros A, Sá R, Sousa M, Pereira R. Silva C, et al. Genes (Basel). 2022 Jul 21;13(7):1291. doi: 10.3390/genes13071291. Genes (Basel). 2022. PMID: 35886074 Free PMC article.
We investigated the expression of a group of mRNAs by using real-time PCR (CATSPER3, CFAP44, CRHR1, HIP1, IQCG KRT34, LRRC6, QRICH2, RSPH6A, SPATA33 and TEKT2) and the highest score corresponding to the target miRNA for each mRNA in asthenozoospermic and normozoospermic in …
We investigated the expression of a group of mRNAs by using real-time PCR (CATSPER3, CFAP44, CRHR1, HIP1, IQCG KRT34, LRRC6, QRICH2, …
19 results