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Z Huang, J-W Xiang, L Zhou, Q Nie, L Wang, Z Chen, X-H Hu, Y Xiao, W-J Qing, Y-F Liu, Q Sun, X-C Tang, F-Y Liu, Z-W Luo, W-B Liu, D W-C Li
The male abnormal gene family contains 3 members, named mab21l1, mab21l2 and mab21l3. Since their first discovery in C. elegans, homologues of mab21l1 and mab21l2 have been found in Drosophila, Zebrafish, Xenopus, chicken, mouse and human. A number of studies have revealed that mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. Here, we review the functions of the mab genes in regulating ocular development.
August 24, 2016: Current Molecular Medicine
Carina C de Oliveira Mann, Reiner Kiefersauer, Gregor Witte, Karl-Peter Hopfner
The exceptionally conserved metazoan MAB21 proteins are implicated in cell fate decisions and share considerable sequence homology with the cyclic GMP-AMP synthase. cGAS is the major innate immune sensor for cytosolic DNA and produces the second messenger 2'-5', 3'-5' cyclic GMP-AMP. Little is known about the structure and biochemical function of other proteins of the cGAS-MAB21 subfamily, such as MAB21L1, MAB21L2 and MAB21L3. We have determined the crystal structure of human full-length MAB21L1. Our analysis reveals high structural conservation between MAB21L1 and cGAS but also uncovers important differences...
2016: Scientific Reports
Ange-Line Bruel, Alice Masurel-Paulet, Jean-Baptiste Rivière, Yannis Duffourd, Daphné Lehalle, Candace Bensignor, Frédéric Huet, Joséphine Borgnon, Florence Roucher, Paul Kuentz, Jean-François Deleuze, Christel Thauvin-Robinet, Laurence Faivre, Julien Thevenon
We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 detected by whole-exome sequencing, considered as the most likely disease-causing variant. Mab21l1 knockout mice present a strikingly similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks...
April 22, 2016: Clinical Genetics
Deepti Anand, Salil A Lachke
Over the past several decades, the biology of the developing lens has been investigated using molecular genetics-based approaches in various vertebrate model systems. These efforts, involving target gene knockouts or knockdowns, have led to major advances in our understanding of lens morphogenesis and the pathological basis of cataracts, as well as of other lens related eye defects. In particular, we now have a functional understanding of regulators such as Pax6, Six3, Sox2, Oct1 (Pou2f1), Meis1, Pnox1, Zeb2 (Sip1), Mab21l1, Foxe3, Tfap2a (Ap2-alpha), Pitx3, Sox11, Prox1, Sox1, c-Maf, Mafg, Mafk, Hsf4, Fgfrs, Bmp7, and Tdrd7 in this tissue...
March 15, 2016: Experimental Eye Research
Anne M Terrell, Deepti Anand, Sylvie F Smith, Christine A Dang, Stephanie M Waters, Mallika Pathania, David C Beebe, Salil A Lachke
The discovery of cytosolic RNA granule (RG) component proteins associated with human cataract has initiated investigations on post-transcriptional mechanisms of gene expression control in the lens. Application of established mouse lens epithelial cell lines (LECs) can provide rapid insights on RG function in lens cells, especially because mouse mutants in several RG components are not available. However, although these LECs represent potential reagents for such analyses, they are uncharacterized for lens gene expression or RG formation...
February 2015: Experimental Eye Research
Byung-Gyu Kim, Youn-Je Park, Towia A Libermann, Je-Yoel Cho
Continuous treatment with parathyroid hormone (PTH) or excess endogenous PTH due to primary hyperparathyroidism causes increased bone resorption and, subsequently, decreased bone volume. Our previous studies showed that myeloid Elf-1-like factor (MEF) not only suppresses osteoblast differentiation through inhibition of Runx2 activity and other osteogenesis-related genes but also specifically increases the expression of Mab21, a potential transcriptional repressor of osteoblast differentiation. Here we show that the JNK1 pathway is involved in the MEF-mediated up-regulation of Mab21 expression due to PTH stimulation...
August 2011: Journal of Cellular Biochemistry
Maria L Cederlund, Victor Vendrell, Maria E Morrissey, Jun Yin, Peadar Ó Gaora, Vincent A Smyth, Desmond G Higgins, Breandán N Kennedy
mab21l1 and mab21l2 paralogs have widespread and dynamic expression patterns during vertebrate development. Both genes are expressed in the developing eye, midbrain, neural tube, and branchial arches. Our goal was to identify promoter regions with activity in mab21l2 expression domains. Assays of mab21l2 promoter-EGFP constructs in zebrafish embryos confirm that constructs containing 7.2 or 4.9 kb of mab21l2 promoter region are sufficient to drive expression in known (e.g., tectum, branchial arches) and unexpected domains (e...
April 2011: Developmental Dynamics: An Official Publication of the American Association of Anatomists
Sen Li, Min Yin, Shuxi Liu, Yi Chen, Yanqing Yin, Tingxi Liu, Jiawei Zhou
Dopaminergic (DA) neurons in the vertebrate di- and mesencephalon play essential roles in movement control, endocrine modulation and many other important physiological activities. To identify genes that may regulate the specification and differentiation of diencephalic DA neurons in zebrafish, the spatial and temporal expression pattern of a set of genes was investigated. In situ hybridization analysis revealed that expression of DNA binding inhibitor 3 (Id3), early B cell factor 2 (Ebf2), Ebf3, Iroquois related homeobox 1 (Irx1), Kruppel-like factor 7 (Klf7), mab-21-like 1 (Mab21l1), fatty acid binding protein 7 (Fabp7) and stathmin-like 4 (Stmn4), were enriched in the diencephalon of zebrafish...
December 2010: Developmental Dynamics: An Official Publication of the American Association of Anatomists
W H Tsang, K F Shek, T Y Lee, K L Chow
The embedding of one gene in another as a nested gene pair is a unique phenomenon of gene clustering in the metazoan genome. A gene-centric paralogous genomic sequence comparison strategy was used in this study to align these paralogous nested pairs, Mab21l2-Lrba and Mab21l1-Nbea, to identify the associated paralogous non-coding elements (pNEs) they shared. A majority of these pNEs in the Mab21l2-Lrba locus display tissue-specific enhancer activities recapitulating the expression profiles of Mab21l2 and Mab21l1...
September 2009: Genomics
Youn-Jeong Kim, Byung-Gyu Kim, Seung-Jin Lee, Ho-Kyung Lee, Sang-Han Lee, Hyun-Mo Ryoo, Je-Yoel Cho
Myeloid Elf-1 like factor (MEF) is a member of the Ets transcription factor family. Ets family proteins control the expression of genes that are critical for biological processes such as proliferation, differentiation, and cell death. Some of Ets factors are also known to regulate bone development. In this study, we investigated the role of MEF in osteoblast differentiation. MEF expression was highest early in the differentiation of MC3T3-E1 osteoblasts and was reduced by treatment with BMP-2. The expression of MEF suppressed the alkaline phosphatase activity and expression induced by BMP-2 stimulation and mediated by Runx2...
April 2007: Journal of Cellular Physiology
Richard A Lang
For more than a century, the lens has provided a relatively simple structure in which to study developmental mechanisms. Lens induction, where adjacent tissues signal the cell fate changes that result in lens formation, have been of particular interest. Embryological manipulations advancing our understanding have included the Spemann optic rudiment ablation experiments, optic vesicle transplantations as well as more contemporary work employing lineage tracers. All this has revealed that lens induction signaling is a multi-stage process involving multiple tissue interactions...
2004: International Journal of Developmental Biology
Elisa Merello, Patrizia De Marco, Anna Moroni, Alessandro Raso, Maria Grazia Calevo, G Giacomo Consalez, Armando Cama, Valeria Capra
BACKGROUND: Neural tube defects (NTDs) are complex embryological malformations, affecting 1 in 1,000 live births. Antisense studies have implicated murine Mab21 genes as having an important role in neural tube development. We investigated whether MAB21L1/L2 genes could be involved in the aetiology of NTDs. METHODS: Denaturing HPLC (DHPLC) analysis of MAB21 genes was performed in 116 NTD cases. A case-control approach was used to test if the two single nucleotide polymorphisms (SNPs) of the MAB21L1 gene might be associated with increased NTD risk...
November 2004: Birth Defects Research. Part A, Clinical and Molecular Teratology
Ryuichi Yamada, Yoko Mizutani-Koseki, Haruhiko Koseki, Naoki Takahashi
The mab-21 gene was first identified because of its requirement for ray identity specification in Caenorhabditis elegans. It is now known to constitute a family of genes that are highly conserved from vertebrates to invertebrates, and two homologues Mab21l1 and Mab21l2 have been identified in many species. Here we describe the generation of Mab21l2-deficient mice, which have defects in eye and body wall formation. The mutant mouse eye has a rudimentary retina, as a result of insufficient invagination of the optic vesicle due to deficient proliferation, causing the absence of lens...
October 15, 2004: Developmental Biology
Breandán N Kennedy, George W Stearns, Vincent A Smyth, Visvanathan Ramamurthy, Fredericius van Eeden, Irina Ankoudinova, David Raible, James B Hurley, Susan E Brockerhoff
Two alleles of an eyeless mutant, chokh (chk), were identified in ongoing zebrafish F(3) mutagenesis screens. Morphologically, chk mutants can be identified at 15 h post-fertilization by the failure of optic primordia to evaginate from the forebrain. The chk phenotype appears specific, as marker genes in the forebrain, midbrain, and pineal are expressed in normal temporal, spatial, and circadian patterns. Sequence analysis of the chk alleles revealed nonsense or missense mutations in the rx3 homeobox. Rx genes encode paired-type homeodomain transcription factors known to be key regulators of eye development in mouse, medaka, Xenopus, and zebrafish...
June 15, 2004: Developmental Biology
M Smith, A Woodroffe, R Smith, S Holguin, J Martinez, P A Filipek, C Modahl, B Moore, M E Bocian, L Mays, T Laulhere, P Flodman, M A Spence
In a sporadic case of autism and language deficit due to auditory processing defects, molecular genetic studies revealed that a chromosomal deletion occurred in the 13q12-->q13 region. No chromosome abnormalities were detected in the parents. We determined that the deletion occurred on the paternally derived chromosome 13. There are two previous reports of chromosome 13 abnormalities in patients with autism. The deletion in the subject described in this paper maps between the two chromosome 13 linkage peaks described by Bradford et al...
2002: Cytogenetic and Genome Research
Ryuichi Yamada, Yoko Mizutani-Koseki, Takanori Hasegawa, Noriko Osumi, Haruhiko Koseki, Naoki Takahashi
The mab-21 gene was first identified because of its requirement for ray identity specification in Caenorhabditis elegans. It is now known to constitute a family of genes that are highly conserved from vertebrates to invertebrates, and two homologs, Mab21l1 and Mab21l2, have been identified in many species. We describe the generation of Mab21l1-deficient mice with defects in eye and preputial gland formation. The mutant mouse eye has a rudimentary lens resulting from insufficient invagination of the lens placode caused by deficient proliferation...
May 2003: Development
Yau-Ming Wong, King L Chow
Mab21 homolog in Caenorhabditis elegans is expressed in the sensory ray cells and determines the ray identity (Dev. Dyn. 221 (2001) 422). Similarly, vertebrate homologs of this gene have been shown to express in the craniofacial tissues, limb bud and neural tissues. We report here the cloning and expression analysis of two zebrafish mab21 genes. Both genes have a conserved open reading frame of 1080 nucleotides. Phylogenetic analysis suggested that the two family subgroups existed prior to the divergence of vertebrates...
May 2002: Mechanisms of Development
Rebecca Lee Yean Wong, King Lau Chow
BACKGROUND: The nematode mab-21 gene specifies sensory ray cell identity and was first isolated because of its mutant sensory ray defects. Vertebrate Mab21 orthologs have since been identified in mammals and amphibians. In this report, we characterized in detail two Mab21 orthologs in mouse, Mab21l1 and Mab21l2. METHODS: We examined the genomic organizations of Mab21 genes and used northern blot and in situ hybridizations to assay their temporal-spatial expression pattern...
February 2002: Teratology
J B Vincent, A D Paterson, E Strong, A Petronis, J L Kennedy
New hopes for cloning susceptibility genes for schizophrenia and bipolar affective disorder followed the discovery of a novel type of DNA mutation, namely unstable DNA. One class of unstable DNA, trinucleotide repeat expansion, is the causal mutation in myotonic dystrophy, fragile X mental retardation, Huntington disease and a number of other rare Mendelian neurological disorders. This finding has led researchers in psychiatric genetics to search for unstable DNA sites as susceptibility factors for schizophrenia and bipolar affective disorder...
2000: American Journal of Medical Genetics
R L Wong, K K Chan, K L Chow
mab-21 has been identified as a critical component required for sensory organ identity establishment in Caenorhabditis elegans. [Chow, K.L., Emmons, S.W., 1994. Development 120, 2579-2592; Chow, E. L., Hall, D.H., Emmons, S.W., 1995. Development 121, 3615-3625]. Human and mouse homologs of this gene have been isolated and their transcripts are predominantly detected in the eye and cerebellum [Margolis, R.L., Stine, O.C., McInnis, M.G., et al., 1996. Hum. Mol. Genet 5, 607-616; Mariani, M., Corradi, A., Baldessari, D...
September 1999: Mechanisms of Development
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