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Y Sribudiani, R K Chauhan, M M Alves, L Petrova, E Brosens, C Harrison, T Wabbersen, B M de Graaf, T Rügenbrink, G Burzynski, R W W Brouwer, W F J van IJcken, S M Maas, A de Klein, J Osinga, B J L Eggen, A J Burns, A S Brooks, I T Shepherd, R M W Hofstra
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. METHODS: We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation...
March 27, 2018: Gastroenterology
Z-X Huang, J-W Xiang, L Zhou, Q Nie, L Wang, Z-G 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.
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
Denise Horn, Trine Prescott, Gunnar Houge, Kristin Brække, Karen Rosendahl, Gen Nishimura, David R FitzPatrick, Jürgen Spranger
We describe a novel recognizable phenotype characterized by anophthalmia, a distinctive skeletal dysplasia and intellectual disability. Radiographic anomalies include severe rhizomelic shortness of the limbs and abnormal joint formation. Recent exome studies showed that these characteristics are part of the phenotypic spectrum of MAB21L2 gene mutations which cause a range of structural eye malformations such as microphthalmia/anophthalmia and ocular coloboma. The two unrelated individuals described here in detail are heterozygous carriers of the same de novo missense mutation c...
August 2015: European Journal of Medical Genetics
Brett Deml, Ariana Kariminejad, Razieh H R Borujerdi, Sanaa Muheisen, Linda M Reis, Elena V Semina
Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree...
2015: PLoS Genetics
Mengyao Dai, Yao Wang, Lu Fang, David M Irwin, Tengteng Zhu, Junpeng Zhang, Shuyi Zhang, Zhe Wang
Bats are the only mammals capable of self-powered flight using wings. Differing from mouse or human limbs, four elongated digits within a broad wing membrane support the bat wing, and the foot of the bat has evolved a long calcar that spread the interfemoral membrane. Our recent mRNA sequencing (mRNA-Seq) study found unique expression patterns for genes at the 5' end of the Hoxd gene cluster and for Tbx3 that are associated with digit elongation and wing membrane growth in bats. In this study, we focused on two additional genes, Meis2 and Mab21l2, identified from the mRNA-Seq data...
2014: PloS One
Andrea Hartsock, Chanjae Lee, Victoria Arnold, Jeffrey M Gross
Two vascular networks nourish the embryonic eye as it develops - the hyaloid vasculature, located at the anterior of the eye between the retina and lens, and the choroidal vasculature, located at the posterior of the eye, surrounding the optic cup. Little is known about hyaloid development and morphogenesis, however. To begin to identify the morphogenetic underpinnings of hyaloid formation, we utilized in vivo time-lapse confocal imaging to characterize morphogenesis of the zebrafish hyaloid through 5 days post fertilization (dpf)...
October 15, 2014: Developmental Biology
Joe Rainger, Davut Pehlivan, Stefan Johansson, Hemant Bengani, Luis Sanchez-Pulido, Kathleen A Williamson, Mehmet Ture, Heather Barker, Karen Rosendahl, Jürgen Spranger, Denise Horn, Alison Meynert, James A B Floyd, Trine Prescott, Carl A Anderson, Jacqueline K Rainger, Ender Karaca, Claudia Gonzaga-Jauregui, Shalini Jhangiani, Donna M Muzny, Anne Seawright, Dinesh C Soares, Mira Kharbanda, Victoria Murday, Andrew Finch, Richard A Gibbs, Veronica van Heyningen, Martin S Taylor, Tahsin Yakut, Per M Knappskog, Matthew E Hurles, Chris P Ponting, James R Lupski, Gunnar Houge, David R FitzPatrick
We identified four different missense mutations in the single-exon gene MAB21L2 in eight individuals with bilateral eye malformations from five unrelated families via three independent exome sequencing projects. Three mutational events altered the same amino acid (Arg51), and two were identical de novo mutations (c.151C>T [p.Arg51Cys]) in unrelated children with bilateral anophthalmia, intellectual disability, and rhizomelic skeletal dysplasia. c.152G>A (p.Arg51His) segregated with autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family...
June 5, 2014: American Journal of Human Genetics
Je Seon Song, Dong Hwan Hwang, Seong-Oh Kim, Mijeong Jeon, Byung-Jai Choi, Han-Sung Jung, Seok Jun Moon, Wonse Park, Hyung-Jun Choi
There are histological and functional differences between human deciduous and permanent periodontal ligament (PDL) tissues. The aim of this study was to determine the differences between these two types of tissue at the molecular level by comparing their gene expression patterns. PDL samples were obtained from permanent premolars (n = 38) and anterior deciduous teeth (n = 31) extracted from 40 healthy persons. Comparative cDNA microarray analysis revealed several differences in gene expression between the deciduous and permanent PDL tissues...
2013: PloS One
Peggy Benisch, Tatjana Schilling, Ludger Klein-Hitpass, Sönke P Frey, Lothar Seefried, Nadja Raaijmakers, Melanie Krug, Martina Regensburger, Sabine Zeck, Thorsten Schinke, Michael Amling, Regina Ebert, Franz Jakob
Primary osteoporosis is an age-related disease characterized by an imbalance in bone homeostasis. While the resorptive aspect of the disease has been studied intensely, less is known about the anabolic part of the syndrome or presumptive deficiencies in bone regeneration. Multipotent mesenchymal stem cells (MSC) are the primary source of osteogenic regeneration. In the present study we aimed to unravel whether MSC biology is directly involved in the pathophysiology of the disease and therefore performed microarray analyses of hMSC of elderly patients (79-94 years old) suffering from osteoporosis (hMSC-OP)...
2012: PloS One
Yohei Saito, Takuya Kojima, Naoki Takahashi
During mouse embryogenesis, proper formation of the heart and liver is especially important and is crucial for embryonic viability. In this study, we showed that Mab21l2 was expressed in the trabecular and compact myocardium, and that deletion of Mab21l2 resulted in a reduction of the trabecular myocardium and thinning of the compact myocardium. Mab21l2-deficient embryonic hearts had decreased expression of genes that regulate cell proliferation and apoptosis of cardiomyocytes. These results show that Mab21l2 functions during heart development by regulating the expression of such genes...
2012: PloS One
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
Maria L Cederlund, Maria E Morrissey, Tom Baden, Dimitri Scholz, Victor Vendrell, Leon Lagnado, Victoria P Connaughton, Breandán N Kennedy
PURPOSE: Amacrine cells constitute a diverse, yet poorly characterized, cell population in the inner retina. Here, the authors sought to characterize the morphology, molecular physiology, and electrophysiology of a subpopulation of EGFP-expressing retinal amacrine cells identified in a novel zebrafish transgenic line. METHODS: After 7.2 kb of the zebrafish mab21l2 promoter was cloned upstream of EGFP, it was used to create the Tg(7.2mab21l2:EGFP)ucd2 transgenic line...
March 1, 2011: Investigative Ophthalmology & Visual Science
Lucie Tosca, Sophie Brisset, François M Petit, Laure Lecerf, Ghislaine Rousseau, Cécile Bas, Mireille Laroudie, Marie-Laure Maurin, Sylvie Tapia, Olivier Picone, Sophie Prevot, Michel Goossens, Philippe Labrune, Gérard Tachdjian
A mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. Chromosomal germinal mosaicism occurs in germ cells before the onset of meiosis. Previously, few studies have described germinal mosaicism. In this study, we report on two siblings who carried identical pure and direct interstitial 4q22.2q32.3 duplication. Procedure investigations included complete clinical description, conventional cytogenetic analysis, fluorescence in situ hybridization (FISH), comparative genomic hybridization (CGH) array experiments and microsatellite study searching for parental origin of the duplication...
August 2010: European Journal of Human Genetics: EJHG
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
Louise V Wolf, Ying Yang, Jinhua Wang, Qing Xie, Barbara Braunger, Ernst R Tamm, Jiri Zavadil, Ales Cvekl
Lineage-specific DNA-binding transcription factors regulate development by activating and repressing particular set of genes required for the acquisition of a specific cell type. Pax6 is a paired domain and homeodomain-containing transcription factor essential for development of central nervous, olfactory and visual systems, as well as endocrine pancreas. Haploinsufficiency of Pax6 results in perturbed lens development and homeostasis. Loss-of-function of Pax6 is incompatible with lens lineage formation and results in abnormal telencephalic development...
2009: PloS One
Stefania Segditsas, Oliver Sieber, Maesha Deheragoda, Phil East, Andrew Rowan, Rosemary Jeffery, Emma Nye, Susan Clark, Bradley Spencer-Dene, Gordon Stamp, Richard Poulsom, Nirosha Suraweera, Andrew Silver, Mohammad Ilyas, Ian Tomlinson
In order to identify new genes with differential expression in early intestinal tumours, we performed mRNA (messenger ribonucleic acid) expression profiling of 16 human and 63 mouse adenomas. All individuals had germline APC mutations to ensure that tumorigenesis was driven by 'second hits' at APC. Using stringent filtering to identify changes consistent between humans and mice, we identified 60 genes up-regulated and 151 down-regulated in tumours. For 22 selected genes--including known Wnt targets--expression differences were confirmed by qRT-PCR (quantitative reverse transcription polymerase chain reaction)...
December 15, 2008: Human Molecular Genetics
C L Galligan, E Baig, V Bykerk, E C Keystone, E N Fish
Gene expression profiling of rheumatoid arthritis (RA) and osteoarthritis (OA) joint tissue samples provides a unique insight into the gene signatures involved in disease development and progression. Fibroblast-like synovial (FLS) cells were obtained from RA, OA and control trauma joint tissues (non-RA, non-OA) and RNA was analyzed by Affymetrix microarray. Thirty-four genes specific to RA and OA FLS cells were identified (P<0.05). HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA...
September 2007: Genes and Immunity
Sheng Wu, Louise Page, Nancy M Sherwood
Gonadotropin-releasing hormone (GnRH) is a highly conserved peptide that is expressed early in brain development in vertebrates. In zebrafish, we detected GnRH mRNA within 2h post fertilization by RT-PCR. To determine if GnRH is involved in development, we used gene knockdown techniques to block translation of gnrh2 or gnrh3 mRNA after which the expression patterns for gene markers were examined at 24h post fertilization with in situ hybridization. First, loss of either GnRH2 or GnRH3 affected regionalization of the brain as shown by a change in expression of fgf8 or pax2...
September 26, 2006: Molecular and Cellular Endocrinology
Danila Baldessari, Aurora Badaloni, Renato Longhi, Vincenzo Zappavigna, G Giacomo Consalez
BACKGROUND: Through in vivo loss-of-function studies, vertebrate members of the Male abnormal 21 (mab-21) gene family have been implicated in gastrulation, neural tube formation and eye morphogenesis. Despite mounting evidence of their considerable importance in development, the biochemical properties and nature of MAB-21 proteins have remained strikingly elusive. In addition, genetic studies conducted in C. elegans have established that in double mutants mab-21 is epistatic to genes encoding various members of a Transforming Growth Factor beta (TGF-beta) signaling pathway involved in the formation of male-specific sensory organs...
December 21, 2004: BMC Cell Biology
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