MAD1L1 (mitotic arrest deficient 1 like 1)
2018-02-01 Keli Lima , Joao Agostinho Machado-Neto, PhD AffiliationIdentity
HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
MAD1,PIG9,TP53I9,TXBP181
FUSION GENES
Abstract
MAD1L1 is coiled-coil protein that binds to improperly attached kinetochrore, what results in recruitment and interaction with MAD2L1, activation of the mitotic checkpoint complex, inhibition of the anaphase-promoting complex\/cyclosome and cell cycle arrest. During interphase, MAD1L1 regulates mitosis entrance at nuclear pore complexes (MAD2L1-dependent mechanism) and Golgi apparatus-related functions (MAD2L1-independent mechanism). Alterations in MAD1L1 are associated with chromosomal instability, aneuploidy, and cancer susceptibility. The present review contains data on MAD1L1 DNA, RNA, protein encoded and function.
DNA/RNA
Description
The entire MAD1L1 gene is approximately 417.1 Kb (start: 1815792 and end: 2232971 bp; orientation: Minus strand). The MAD1L1 gene encodes for 6 transcript variants. The transcript variant 1 (start: 1815792 and end: 2232948 bp; orientation: Minus strand; 19 exons; mRNA: 2754 bp) is the longest transcript variant. Transcript variant 2 (mRNA: 2717 bp), transcript variant 3 (mRNA: 2714 bp) and transcript variant 4 (mRNA: 2538 bp) differs in the 5 UTR compared to transcript variant 1. The transcript variants 1-4 encode the protein isoform a (718 aa protein). The transcript variant 5 (mRNA: 2376 bp; 17 exons) lacks some exons in the 5 UTR and displays an alternate exon in the 5 coding region, what results in an alternative start codon, frameshift, and a shorter and distinct protein (isoform b; 626 aa). The transcript variant 6 is the shortest transcript variant (start: 1815792 and end: 1940550 bp; 4 exons; mRNA: 1318 bp), it displays an alternative 5-terminal exon, uses an in-frame start codon and encodes the protein isoform c (174 aa).
Proteins
Figure 1. MAD1L1 protein structure. MAD1L1 protein contains a MAD1L1 oligomerization domain, MAD2L1-binding domain and RLK motif (Arg-Leu-Lys; essential for BUB1 and BUB3 interactions). This figure was adapted from Canman et al., 2002; Sironi et al., 2002.
Description
MAD1L1 is a 718-residue coiled-coil protein that interacts with MAD2L1, and is composite of a MAD1L1 oligomerization domain, MAD2L1-binding domain and RLK motif (Arg-Leu-Lys; essential for BUB1 and BUB3 interactions) (Canman et al., 2002; Sironi et al., 2002) (Figure 1). MAD1L1-MAD2L1 complexes form a tetramer-like structure due to the parallel intermolecular coiled-coil between α 1 helices from different MAD1L1 molecules (Nasmyth, 2005; Sironi et al., 2002).
Expression
Ubiquitous.
Localisation
During mitosis, MAD1L1 is localized predominantly at unattached kinetochore. During interphase, MAD1L1 is localized in perinuclear region, nuclear pore complex, centrosome and Golgi apparatus (Campbell et al., 2001; Rodriguez-Bravo et al., 2014; Wan et al., 2014).
Figure 2. MAD1L1 functions in spindle assembly checkpoint. (Upper panel) During mitosis, MAD1L1 binds to improperly attached kinetochrore, what results in recruitment and interaction with MAD2L1, and activation of the mitotic checkpoint complex (MCC). The MCC inhibits the anaphase-promoting complex/cyclosome (APC/C) and leads to cell cycle arrest. (Lower panel) In absence of unattached kinetochores, MAD1L1/MAD2L1 complex is not recruited, what results in chromosome segregation during anaphase. This figure was created using Servier Medical Art tools (http://www.servier.com).
Function
MAD1L1 belongs to the assembly control of the mitotic spindle, which acts as a component capable of blocking the onset of the anaphase if the chromosomes are not correctly aligned on the metaphase plate (Hardwick and Murray, 1995). The MAD1L1 protein has approximately 83 kDa and interacts with other proteins, such as MAD2L1, to perform its functions (Campbell et al., 2001; Wright et al., 2017). The complex MAD1L1/MAD2L1 binds to improperly attached kinetochrore, induces MAD1L1 phosphorylation by MPS1, and acts as an anchor for the formation of other protein interactions, including MAD2L1-CDC20 complex. The molecular events upon MAD1L1 and unattached kinetochores interaction lead to the formation of mitotic checkpoint complex (MCC), inhibition of anaphase-promoting complex/cyclosome (APC/C), and cell cycle arrest (Reviewed by Schuyler et al., 2012 and London and Biggins, 2014) (Figure 2).
Rodriguez-Bravo and colleagues (Rodriguez-Bravo et al., 2014) reported that the MAD1L1-MAD2L1 complex anchored to the nuclear pore complexes emits an inhibitory signal that limits the speed of the mitosis, facilitating corrections of possible errors, which would avoid a cell cycle arrest. Alterations in MAD1L1 are associated with chromosomal instability and aneuploidy (Avram et al., 2014; Tsukasaki et al., 2001).
Wan and colleagues (Wan et al., 2014) reported an elegant mechanistic study that described the non-related spindle assembly checkpoint and MAD2L1 independent functions for MADlL1. During interphase, MAD1L1 is localized in the Golgi apparatus, and participates in integrin secretion, adhesion, mobility, cell migration and PTK2 (FAK) signaling pathway (Wan et al., 2014).
Rodriguez-Bravo and colleagues (Rodriguez-Bravo et al., 2014) reported that the MAD1L1-MAD2L1 complex anchored to the nuclear pore complexes emits an inhibitory signal that limits the speed of the mitosis, facilitating corrections of possible errors, which would avoid a cell cycle arrest. Alterations in MAD1L1 are associated with chromosomal instability and aneuploidy (Avram et al., 2014; Tsukasaki et al., 2001).
Wan and colleagues (Wan et al., 2014) reported an elegant mechanistic study that described the non-related spindle assembly checkpoint and MAD2L1 independent functions for MADlL1. During interphase, MAD1L1 is localized in the Golgi apparatus, and participates in integrin secretion, adhesion, mobility, cell migration and PTK2 (FAK) signaling pathway (Wan et al., 2014).
Homology
MAD1L1 has a high homology among different species (Table 1).
Table 1. Comparative identity of human MAD1L1 with other species
(Source: http://www.ncbi.nlm.nih.gov/homologene)
Table 1. Comparative identity of human MAD1L1 with other species
| % Identity for: Homo sapiens MAD1L1 | Symbol | Protein | DNA |
vs. P. troglodytes | MAD1L1 | 99.4 | 99.4 |
vs. M. mulatta | MAD1L1 | 98.4 | 96.7 |
vs. C. lupus | MAD1L1 | 84.0 | 84.3 |
vs. B. taurus | MAD1L1 | 84.7 | 85.4 |
vs. M. musculus | Mad1l1 | 81.4 | 81.4 |
vs. R. norvegicus | Mad1l1 | 83.4 | 82.3 |
vs. G. gallus | MAD1L1 | 70.0 | 73.2 |
vs. X. tropicalis | mad1l1 | 63.0 | 65.0 |
vs. D. rerio | mad1l1 | 54.1 | 60.6 |
vs. D. melanogaster | Mad1 | 28.9 | 45.0 |
vs. A. gambiae | AgaP_AGAP006632 | 28.8 | 47.7 |
(Source: http://www.ncbi.nlm.nih.gov/homologene)
Mutations
Somatic
Recurrent mutations in the MAD1L1 gene are rare, and 153 missense substitution, 69 synonymous substitution, 8 nonsense substitution, 1 frameshift insertion and 8 frameshift deletion mutations are reported in COSMIC (Catalogue of Somatic Mutations in Cancer; http://cancer.sanger.ac.uk/cancergenome/projects/cosmic). Similar findings were reported in cBioPortal (http://www.cbioportal.org), which includes 41824 cancer samples: somatic mutation frequency in MAD1L1 was 0.5% (195 mutations, being 166 missense and 29 truncating mutations). Analyzing together, mutation, amplification, deep deletion and multiple alterations, the total of cancer samples with any type of alteration was 570 (1.4%).
Implicated in
Entity name
Colorectal cancer
Note
In HCT116 colorectal carcinoma cell line, MAD1L1 silencing disturbed the spindle checkpoint and leaded to aneuploidy (Kienitz et al., 2005). On the other hand, the induction of MAD1L1 overexpression resulted in aberrant mitotic timing, aneuploidy and resistance to apoptosis in DLD1 cells, a chromosomally stable colorectal cancer cell line (Ryan et al., 2012). The presence of the genotype His/His for the MAD1L1 Arg558His (rs1801368) polymorphism was associated with increased risk for colorectal cancer, using a dominant model, in a Chinese cohort (Zhong et al., 2015).
Entity name
Liver cancer
Note
MAD1L1 expression was observed in 70% of new early diagnosed cases and 30% of recurrence hepatocellular carcinoma patients, suggesting that the loss of MAD1L1 may be involved in disease progression (Nam et al., 2008). MAD1L1 was found to be methylated in 50% of hepatocellular carcinoma cell lines and primary samples tested. Low MAD1L1 methylation was associated with increased tumor size and recurrence in hepatocellular carcinoma patients (Cui et al., 2016). Sze and colleagues (Sze et al., 2008) identified a novel splicing variant of MAD1L1, which was found overexpressed in 24% of hepatocellular carcinoma samples. Using functional studies, the authors showed that the ectopic expression of this novel splicing variant results mitotic checkpoint impairment and aneuploidy hematoma cell lines (Sze et al., 2008).
Entity name
Lung cancer
Note
An initial screening for MAD1L1 mutations in 49 lung cancer patients found one sample with somatic mutation (T299A) and 1 sample with a possible germline mutation (R556H). Coe and colleagues (Coe et al., 2006) reported that the gain of a region on 7p22.3, including 350 Kbp fragment centered at MAD1L1, was observed in 13 out of 14 small-cell lung cancers (H187, H378, H889, H1607, H1672, H2107, H2141, H2171, HCC33, H82, H289, H524, H526, and H841) and in none of normal (BL289, BL1607, BL1672, BL2107, BL2141, and BL2171) cell lines analyzed. Using immunohistochemistry analysis, MAD1L1 positive expression was found to be higher in lymph node metastasis and primary tumor samples from small-cell lung cancer patients compared to adjacent non-cancerous tissue samples (Li et al., 2016). In small-cell lung cancer, the presence of MAD1L1 expression was associated with advanced stage of the disease, increased tumor size, higher incidence of lymph node metastasis and recurrence, and it was an independent predictor of poor survival outcomes (Li et al., 2016). In a cohort containing 1000 lung cancer patients and 1000 healthy donors, the genotype His/His for the MAD1L1 Arg558His (rs1801368) polymorphism was associated with lung cancer risk (Guo et al., 2010).
Entity name
Breast cancer
Note
MAD1L1 was frequently higher expressed in tumor compared to non-malignant or normal breast cancer samples (Ryan et al., 2012; Yuan et al., 2006) and increased levels of MAD1L1 were associated with poor survival outcomes (Ryan et al., 2012). Conversely, high cytoplasm expression of MAD1L1 was observed in both, normal and breast cancer samples. However, nuclear MAD1L1 expression was significantly more frequent in breast cancer (28%) than normal (2%) samples (Sun et al., 2013). In the same study, the author also reported that nuclear MAD1L1 was associated with lower age onset, increased tumor size, higher tumor stage, presence of TP53 mutations and disease subtypes, and positive nuclear MAD1L1 was an independent predictor of worse clinical outcomes in breast cancer patients (Sun et al., 2013). In MCF-7, a breast cancer cell line, siRNA-mediate MAD1L1 silencing increased migration and reduced E-cadherin expression (Chen et al., 2012).
Entity name
Gastric cancer
Note
Using proteomic approaches in primary samples of gastric carcinomas and its corresponding non-cancerous gastric mucosa, MAD1L1 was identified as lower expressed in gastric carcinoma samples (Nishigaki et al., 2005). Later, the same research group reported that MAD1L1 was downregulated in 47% of gastric adenomas and 60% of gastric carcinomas, and advanced carcinomas presented lower levels compared to early carcinomas (Osaki et al., 2007). In MKN-1, a gastric carcinoma cell line, ectopic MAD1L1 expression reduced proliferation and cell cycle progression (Osaki et al., 2007).
Entity name
Head and neck/oral cancer
Note
Bhattacharjya and colleagues (Bhattacharjya et al., 2013) described a negative correlation between MAD1L1 and MIR125B, a miRNA associated with the suppression of malignant phenotype, in primary samples from head and neck/oral cancer patients. Recently, the t(5;7)(q34;p22) with fusion gene RARS /MAD1L1 was identified in 10% of nasopharyngeal carcinoma and head and neck cancer samples (Zhong et al., 2017). Functional studies indicated that RARS/MAD1L1 enhances cell proliferation, clonogenicity and tumorigenicity (Zhong et al., 2017).
Entity name
Kidney cancer
Note
Using quantitative PCR, Pinto and colleagues (Pinto et al., 2007) reported that MAD1L1 is expressed at low levels in chromophobe renal cell carcinoma compared to normal kidney samples. The authors also reported that MAD1L1 mRNA levels are reduced in samples from clear cell kidney carcinoma compared to healthy donors (Pinto et al., 2008).
Entity name
Ovarian cancer
Note
MAD1L1 mRNA levels were found to be downregulated in chemoresistant compared to chemosensitive epithelial ovarian tumors (Ju et al., 2009). Santibáñez and colleagues (Santibanez et al., 2013) reported that the genotype AA for the polymorphism MAD1L1 G1673A (rs1801368) was associated with advanced epithelial ovarian cancer risk and that the allele A was significantly associated with increased aneuploid cells in ovarian tumor samples. Functional studies indicate that the AA genotype is also associated with higher frequency of micronuclei and nondisjunction events (Santibanez et al., 2013).
Entity name
Glioma
Note
MAD1L1 gene expression was increased in grade IV gliomas compared to normal brain tissues (Bie et al., 2011).
Entity name
Leukemia
Note
MAD1L1 is highly expressed in leukemia cell lines (Jurkat and K562) compared to normal peripheral blood mononuclear cells. In normal leukocytes, cell proliferation induction by PHA plus IL2 increased MAD1L1 expression (Iwanaga and Jeang, 2002).
Entity name
Lymphoma
Note
Using proteomics and transcriptomics approaches, MAD1L1 was higher expressed in follicular lymphoma - compared to mantle cell lymphoma -derived cell lines (Weinkauf et al., 2007) .
Entity name
Myeloproliferative neoplasm
Note
Using whole-genome sequencing, Sloma and colleagues (Sloma et al., 2017) reported the presence of R270W heterozygous mutation in MAD1L1 gene in unusual case of BCR / ABL1 - and JAK2 V617F -positive chronic myeloid leukemia during chronic phase and accelerate phase. However, upon blast crisis evolution, the MAD1L1R270W mutation was found in homozygosis. The authors also reported the MAD1L1R270W mutation in an additional case of JAK2V617F -positive essential thrombocythemia (1 out of 101 myeloproliferative neoplasm cases tested) (Sloma et al., 2017).
Entity name
Prostate cancer
Note
MAD1L1 heterozygous mutations were found in 2 out of 7 prostate cancer cell lines (LNCaP: MAD1L1R556C, and LPC4: MAD1L1R359Q) and 2 out of 33 (MAD1L1R59C and a stop codon at 318) primary samples from prostate carcinoma patients (Tsukasaki et al., 2001).
Entity name
Testicular germ cell tumor
Note
Using a large cohort of testicular germ cell tumor and healthy donors, and genome-wide association study as approach, Chung and colleagues (Chung et al., 2013) identified that the SNP rs12699477 of MAD1L1 was associated with testicular germ cell tumor risk.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 24724894 | 2014 | Mitotic checkpoint proteins Mad1 and Mad2 - structural and functional relationship with implication in genetic diseases. | Avram S et al |
| 22022424 | 2011 | The accuracy of survival time prediction for patients with glioma is improved by measuring mitotic spindle checkpoint gene expression. | Bie L et al |
| 11181178 | 2001 | Mitotic checkpoint proteins HsMAD1 and HsMAD2 are associated with nuclear pore complexes in interphase. | Campbell MS et al |
| 12235289 | 2002 | Anaphase onset does not require the microtubule-dependent depletion of kinetochore and centromere-binding proteins. | Canman JC et al |
| 3099851 | 1987 | UDPgalactose:glucosylceramide beta 1----4-galactosyltransferase activity in human proximal tubular cells from normal and familial hypercholesterolemic homozygotes. | Chatterjee S et al |
| 22024768 | 2012 | The spindle checkpoint protein MAD1 regulates the expression of E-cadherin and prevents cell migration. | Chen Y et al |
| 23666239 | 2013 | Meta-analysis identifies four new loci associated with testicular germ cell tumor. | Chung CC et al |
| 16130125 | 2006 | Gain of a region on 7p22.3, containing MAD1L1, is the most frequent event in small-cell lung cancer cell lines. | Coe BP et al |
| 26138747 | 2016 | Genome-wide identification of differential methylation between primary and recurrent hepatocellular carcinomas. | Cui C et al |
| 20516147 | 2010 | Functional evaluation of missense variations in the human MAD1L1 and MAD2L1 genes and their impact on susceptibility to lung cancer. | Guo Y et al |
| 7593191 | 1995 | Mad1p, a phosphoprotein component of the spindle assembly checkpoint in budding yeast. | Hardwick KG et al |
| 17210695 | 2007 | Heterozygous deletion of mitotic arrest-deficient protein 1 (MAD1) increases the incidence of tumors in mice. | Iwanaga Y et al |
| 11980658 | 2002 | Expression of mitotic spindle checkpoint protein hsMAD1 correlates with cellular proliferation and is activated by a gain-of-function p53 mutant. | Iwanaga Y et al |
| 20066894 | 2009 | Identification of genes with differential expression in chemoresistant epithelial ovarian cancer using high-density oligonucleotide microarrays. | Ju W et al |
| 15782113 | 2005 | Partial downregulation of MAD1 causes spindle checkpoint inactivation and aneuploidy, but does not confer resistance towards taxol. | Kienitz A et al |
| 26499943 | 2016 | Mitotic arrest deficient-like 1 is correlated with poor prognosis in small-cell lung cancer after surgical resection. | Li D et al |
| 25303117 | 2014 | Signalling dynamics in the spindle checkpoint response. | London N et al |
| 18491369 | 2008 | Mitotic checkpoint gene MAD1 in hepatocellular carcinoma is associated with tumor recurrence after surgical resection. | Nam CW et al |
| 15797376 | 2005 | How do so few control so many? | Nasmyth K et al |
| 16003825 | 2005 | Proteomic identification of differentially-expressed genes in human gastric carcinomas. | Nishigaki R et al |
| 17674037 | 2007 | MAD1 (mitotic arrest deficiency 1) is a candidate for a tumor suppressor gene in human stomach. | Osaki M et al |
| 17333263 | 2007 | Expression changes of the MAD mitotic checkpoint gene family in renal cell carcinomas characterized by numerical chromosome changes. | Pinto M et al |
| 18791270 | 2008 | Overexpression of the mitotic checkpoint genes BUB1 and BUBR1 is associated with genomic complexity in clear cell kidney carcinomas. | Pinto M et al |
| 19372138 | 2009 | Enhanced genomic instabilities caused by deregulated microtubule dynamics and chromosome segregation: a perspective from genetic studies in mice. | Rao CV et al |
| 24581499 | 2014 | Nuclear pores protect genome integrity by assembling a premitotic and Mad1-dependent anaphase inhibitor. | Rodriguez-Bravo V et al |
| 22778409 | 2012 | Up-regulation of the mitotic checkpoint component Mad1 causes chromosomal instability and resistance to microtubule poisons. | Ryan SD et al |
| 23407047 | 2013 | The MAD1 1673 G → A polymorphism alters the function of the mitotic spindle assembly checkpoint and is associated with a worse response to induction chemotherapy and sensitivity to treatment in patients with advanced epithelial ovarian cancer. | Santibáñez M et al |
| 23093575 | 2012 | The Mad1-Mad2 balancing act--a damaged spindle checkpoint in chromosome instability and cancer. | Schuyler SC et al |
| 12006501 | 2002 | Crystal structure of the tetrameric Mad1-Mad2 core complex: implications of a 'safety belt' binding mechanism for the spindle checkpoint. | Sironi L et al |
| 28602946 | 2017 | Whole-genome analysis reveals unexpected dynamics of mutant subclone development in a patient with JAK2-V617F-positive chronic myeloid leukemia. | Sloma I et al |
| 23860928 | 2013 | Increased expression of mitotic arrest deficient-like 1 (MAD1L1) is associated with poor prognosis and insensitive to Taxol treatment in breast cancer. | Sun Q et al |
| 19010891 | 2008 | Role of a novel splice variant of mitotic arrest deficient 1 (MAD1), MAD1beta, in mitotic checkpoint control in liver cancer. | Sze KM et al |
| 11423979 | 2001 | Mutations in the mitotic check point gene, MAD1L1, in human cancers. | Tsukasaki K et al |
| 25447996 | 2014 | A Golgi-localized pool of the mitotic checkpoint component Mad1 controls integrin secretion and cell migration. | Wan J et al |
| 17990259 | 2007 | Proteome- and microarray-based expression analysis of lymphoma cell lines identifies a p53-centered cluster of differentially expressed proteins in mantle cell and follicular lymphoma. | Weinkauf M et al |
| 28346444 | 2017 | Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility. | Wright DJ et al |
| 16428479 | 2006 | Increased expression of mitotic checkpoint genes in breast cancer cells with chromosomal instability. | Yuan B et al |
| 29133573 | 2018 | The RARS-MAD1L1 Fusion Gene Induces Cancer Stem Cell-like Properties and Therapeutic Resistance in Nasopharyngeal Carcinoma. | Zhong Q et al |
| 26183163 | 2015 | MAD1L1 Arg558His and MAD2L1 Leu84Met interaction with smoking increase the risk of colorectal cancer. | Zhong R et al |
Other Information
Locus ID:
NCBI: 8379
MIM: 602686
HGNC: 6762
Ensembl: ENSG00000002822
Variants:
dbSNP: 8379
ClinVar: 8379
TCGA: ENSG00000002822
COSMIC: MAD1L1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA445204 | Ovarian Neoplasms | Disease | ClinicalAnnotation | associated | PD | 23407047 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 23407047 | |
| PA450761 | paclitaxel | Chemical | ClinicalAnnotation | associated | PD | 23407047 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36357673 | 2023 | Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex. | 6 |
| 36600305 | 2023 | Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression. | 2 |
| 37851364 | 2023 | The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma. | 0 |
| 36357673 | 2023 | Schizophrenia-associated Mitotic Arrest Deficient-1 (MAD1) regulates the polarity of migrating neurons in the developing neocortex. | 6 |
| 36600305 | 2023 | Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression. | 2 |
| 37851364 | 2023 | The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma. | 0 |
| 35406744 | 2022 | The Sin3A/MAD1 Complex, through Its PAH2 Domain, Acts as a Second Repressor of Retinoic Acid Receptor Beta Expression in Breast Cancer Cells. | 1 |
| 35987687 | 2022 | Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk. | 7 |
| 35406744 | 2022 | The Sin3A/MAD1 Complex, through Its PAH2 Domain, Acts as a Second Repressor of Retinoic Acid Receptor Beta Expression in Breast Cancer Cells. | 1 |
| 35987687 | 2022 | Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk. | 7 |
| 34481484 | 2021 | MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population. | 6 |
| 34481484 | 2021 | MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population. | 6 |
| 31498969 | 2020 | Association of MAD1L1 polymorphism (rs871925) with prenatal famine exposure and schizophrenia in a Chinese population: A case-control study. | 2 |
| 31710517 | 2020 | Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis. | 131 |
| 32202322 | 2020 | Cyclin B1 scaffolds MAD1 at the kinetochore corona to activate the mitotic checkpoint. | 31 |
Citation
Keli Lima ; Joao Agostinho Machado-Neto, PhD
MAD1L1 (mitotic arrest deficient 1 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-02-01
Online version: http://www.atlasgeneticsoncology.org/gene/41226/mad1l1-(mitotic-arrest-deficient-1-like-1)
