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Homeodomain

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https://www.readbyqxmd.com/read/29036646/de-novo-deleterious-sequence-variants-that-alter-the-transcriptional-activity-of-the-homeoprotein-pbx1-are-associated-with-intellectual-disability-and-pleiotropic-developmental-defects
#1
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads...
September 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29036198/the-homeodomain-interacting-protein-kinase-hpk-1-preserves-protein-homeostasis-and-longevity-through-master-regulatory-control-of-the-hsf-1-chaperone-network-and-torc1-restricted-autophagy-in-caenorhabditis-elegans
#2
Ritika Das, Justine A Melo, Manjunatha Thondamal, Elizabeth A Morton, Adam B Cornwell, Beresford Crick, Joung Heon Kim, Elliot W Swartz, Todd Lamitina, Peter M Douglas, Andrew V Samuelson
An extensive proteostatic network comprised of molecular chaperones and protein clearance mechanisms functions collectively to preserve the integrity and resiliency of the proteome. The efficacy of this network deteriorates during aging, coinciding with many clinical manifestations, including protein aggregation diseases of the nervous system. A decline in proteostasis can be delayed through the activation of cytoprotective transcriptional responses, which are sensitive to environmental stress and internal metabolic and physiological cues...
October 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29033691/identification-of-genes-and-pathways-potentially-related-to-phf20-by-gene-expression-profile-analysis-of-glioblastoma-u87-cell-line
#3
Tianlong Liu, Tiejun Zhang, Feng Zhou, Jitao Wang, Xiaohu Zhai, Nan Mu, Jongsun Park, Minna Liu, Wenxing Liu, Peijin Shang, Yi Ding, Aidong Wen, Yuwen Li
BACKGROUND: Glioblastoma is the most common and aggressive brain tumor associated with a poor prognosis. Plant homeodomain finger protein 20 (PHF20) is highly expressed in primary human gliomas and its expression is associated with tumor grade. However, the molecular mechanism by which PHF20 regulates glioblastoma remains poorly understood. METHODS: Genome wide gene expression analysis was performed to identify differentially expressed genes (DEGs) in U87 cells with PHF20 gene knockdown...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/29031632/separate-transcriptionally-regulated-pathways-specify-distinct-classes-of-sister-dendrites-in-a-nociceptive-neuron
#4
Barbara M J O'Brien, Sierra D Palumbos, Michaela Novakovic, Xueying Shang, Lakshmi Sundararajan, David M Miller
The dendritic processes of nociceptive neurons transduce external signals into neurochemical cues that alert the organism to potentially damaging stimuli. The receptive field for each sensory neuron is defined by its dendritic arbor, but the mechanisms that shape dendritic architecture are incompletely understood. Using the model nociceptor, the PVD neuron in C. elegans, we determined that two types of PVD lateral branches project along the dorsal/ventral axis to generate the PVD dendritic arbor: (1) Pioneer dendrites that adhere to the epidermis, and (2) Commissural dendrites that fasciculate with circumferential motor neuron processes...
October 12, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29029025/insulin-deficient-mouse-%C3%AE-cells-do-not-fully-mature-but-can-be-remedied-through-insulin-replacement-by-islet-transplantation
#5
Adam Ramzy, Majid Mojibian, Timothy J Kieffer
Insulin receptor insufficiency in β-cells leads to impaired insulin secretion and reduced β-cell hyperplasia in response to hyperglycemia. Selective insulin receptor deficiency in β-cells in later embryological development may lead to compensatory β-cell hyperplasia. Though these findings suggest insulin signaling on the β-cell is important for β-cell function, they are confounded by loss of signaling by the IGFs through the insulin receptor. To determine if insulin itself is necessary for β-cell development and maturation, we performed a characterization of pancreatic islets in mice with deletions of both non-allelic insulin genes (Ins1-/-Ins2-/-)...
September 27, 2017: Endocrinology
https://www.readbyqxmd.com/read/29028795/alx4-relays-sequential-fgf-signaling-to-induce-lacrimal-gland-morphogenesis
#6
Ankur Garg, Mukesh Bansal, Noriko Gotoh, Gen-Sheng Feng, Jian Zhong, Fen Wang, Ariana Kariminejad, Steven Brooks, Xin Zhang
The sequential use of signaling pathways is essential for the guidance of pluripotent progenitors into diverse cell fates. Here, we show that Shp2 exclusively mediates FGF but not PDGF signaling in the neural crest to control lacrimal gland development. In addition to preventing p53-independent apoptosis and promoting the migration of Sox10-expressing neural crests, Shp2 is also required for expression of the homeodomain transcription factor Alx4, which directly controls Fgf10 expression in the periocular mesenchyme that is necessary for lacrimal gland induction...
October 13, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29021563/non-canonical-reader-modules-of-baz1a-promote-recovery-from-dna-damage
#7
Mariano Oppikofer, Meredith Sagolla, Benjamin Haley, Hui-Min Zhang, Sarah K Kummerfeld, Jawahar Sudhamsu, E Megan Flynn, Tianyi Bai, Jennifer Zhang, Claudio Ciferri, Andrea G Cochran
Members of the ISWI family of chromatin remodelers mobilize nucleosomes to control DNA accessibility and, in some cases, are required for recovery from DNA damage. However, it remains poorly understood how the non-catalytic ISWI subunits BAZ1A and BAZ1B might contact chromatin to direct the ATPase SMARCA5. Here, we find that the plant homeodomain of BAZ1A, but not that of BAZ1B, has the unusual function of binding DNA. Furthermore, the BAZ1A bromodomain has a non-canonical gatekeeper residue and binds relatively weakly to acetylated histone peptides...
October 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/29018473/qtl-analyses-in-multiple-populations-employed-for-the-fine-mapping-and-identification-of-candidate-genes-at-a-locus-affecting-sugar-accumulation-in-melon-cucumis-melo-l
#8
Jason M Argyris, Aurora Díaz, Valentino Ruggieri, Marta Fernández, Torben Jahrmann, Yves Gibon, Belén Picó, Ana M Martín-Hernández, Antonio J Monforte, Jordi Garcia-Mas
Sugar content is the major determinant of both fruit quality and consumer acceptance in melon (Cucumis melo L), and is a primary target for crop improvement. Near-isogenic lines (NILs) derived from the intraspecific cross between a "Piel de Sapo" (PS) type and the exotic cultivar "Songwhan Charmi" (SC), and several populations generated from the cross of PS × Ames 24294 ("Trigonus"), a wild melon, were used to identify QTL related to sugar and organic acid composition. Seventy-eight QTL were detected across several locations and different years, with three important clusters related to sugar content located on chromosomes 4, 5, and 7...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29016956/chickpea-wrky70-regulates-the-expression-of-a-homeodomain-leucine-zipper-hd-zip-i-transcription-factor-cahdz12-which-confers-abiotic-stress-tolerance-in-transgenic-tobacco-and-chickpea
#9
Senjuti Sen, Joydeep Chakraborty, Prithwi Ghosh, Debabrata Basu, Sampa Das
Drought and salinity are the two major environmental constraints that severely affect global agricultural productivity. Plant-specific HD-Zip transcription factors are involved in plant growth, development and stress responses. In the present study, we explored the functional characteristics and regulation of a novel HD-Zip (I) gene from chickpea, CaHDZ12, in response to water-deficit and salt-stress conditions. Transgenic tobacco lines overexpressing CaHDZ12 exhibited improved tolerance to osmotic stresses and increased sensitivity to abscisic acid (ABA)...
September 11, 2017: Plant & Cell Physiology
https://www.readbyqxmd.com/read/28994305/plant-homeodomain-finger-protein-2-as-a-novel-ikaros-target-in-acute-lymphoblastic-leukemia
#10
Zheng Ge, Yan Gu, Qi Han, Justin Sloane, Qinyu Ge, Goufeng Gao, Jinlong Ma, Huihui Song, Jiaojiao Hu, Baoan Chen, Sinisa Dovat, Chunhua Song
AIM: Clinical significance of plant homeodomain finger 2 (PHF2) expressions is explored in acute lymphoblastic leukemia (ALL) patients. METHODS: mRNA level was examined by qPCR. The retroviral gene expression, shRNA knockdown and chromatin-immunoprecipitation are used to observe IKAROS regulation on PHF2 transcription. RESULTS: PHF2 expression is significantly reduced in subsets of ALL patients, and PHF2 (low) expression correlates with leukemia cell proliferation and an elevation of several poor prognostic markers in B-cell ALL...
October 10, 2017: Epigenomics
https://www.readbyqxmd.com/read/28990781/selective-distance-measurements-using-triple-spin-labeling-with-gd3-mn2-and-a-nitroxide
#11
Zuyan Wu, Akiva Feintuch, Alberto Collauto, Luke A Adams, Luigi Aurelio, Bim Graham, Gottfried Otting, Daniella Goldfarb
Distance measurements by pulse EPR techniques, such as double electron-electron resonance (DEER, also called PELDOR), have become an established tool to explore structural properties of bio-macromolecules and their assemblies. In such measurements a pair of spin labels provides a single distance constraint. Here we show that by employing three different types of spin labels that differ in their spectroscopic and spin dynamics properties it is possible to extract three independent distances from a single sample...
October 9, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28974698/characterization-of-the-promoter-region-of-the-bovine-six1-gene-roles-of-myod-pax7-creb-and-myog
#12
Da-Wei Wei, Xue-Yao Ma, Song- Zhang, Jie-Yun Hong, Lin-Sheng Gui, Chu-Gang Mei, Hong-Fang Guo, Li- Wang, Yue- Ning, Lin-Sen Zan
The SIX1 gene belongs to the family of six homeodomain transcription factors (TFs), that regulates the extracellular signal-regulated kinase 1/2 (ERK1/2) pathway and mediate skeletal muscle growth and regeneration. Previous studies have demonstrated that SIX1 is positively correlated with body measurement traits (BMTs). However, the transcriptional regulation of SIX1 remains unclear. In the present study, we determined that bovine SIX1 was highly expressed in the longissimus thoracis. To elucidate the molecular mechanisms involved in bovine SIX1 regulation, 2-kb of the 5' regulatory region were obtained...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28969374/biallelic-mutations-in-the-homeodomain-of-nkx6-2-underlie-a-severe-hypomyelinating-leukodystrophy
#13
Imen Dorboz, Chiara Aiello, Cas Simons, Robert Thompson Stone, Marcello Niceta, Monique Elmaleh, Mohammad Abuawad, Diane Doummar, Alessandro Bruselles, Nicole I Wolf, Lorena Travaglini, Odile Boespflug-Tanguy, Marco Tartaglia, Adeline Vanderver, Diana Rodriguez, Enrico Bertini
Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a transcription factor regulating multiple developmental processes with a main role in oligodendrocyte differentiation and regulation of myelin-specific gene expression, as the cause underlying a previously unrecognized severe variant of hypomyelinating leukodystrophy...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28965833/hairy-leaf-6-an-ap2-erf-transcription-factor-interacts-with-oswox3b-and-regulates-trichome-formation-in-rice
#14
Wenqiang Sun, Dawei Gao, Yin Xiong, Xinxin Tang, Xiongfeng Xiao, Chongrong Wang, Sibin Yu
Trichome formation has been extensively studied as a mechanistic model for epidermal cell differentiation and cell morphogenesis in plants. However, the genetic and molecular mechanisms underlying trichome formation (i.e. initiation and elongation) in rice remain largely unknown. Here, we report an AP2/ERF transcription factor, Hairy Leaf 6 (HL6), which controls trichome formation in rice. Functional characterization of HL6 revealed that HL6 transcriptionally regulates trichome elongation in rice. Furthermore, the regulation of HL6 in trichome elongation is dependent on functional OsWOX3B, which encodes a homeodomain-containing protein that acts as a key regulator in trichome initiation...
September 28, 2017: Molecular Plant
https://www.readbyqxmd.com/read/28961318/hoxa9-is-critical-in-the-proliferation-differentiation-and-malignancy-of-leukaemia-cells-both-in-vitro-and-in-vivo
#15
Shibing Chen, Juan Yu, Xin Lv, Lijuan Zhang
Progress in the understanding of the molecular mechanism for acute myeloid leukaemia is of great significance to generate new potential targets for treatment. Recent studies showed that HOXA9, a homeodomain-containing transcription factor, is commonly deregulated in acute leukaemia. In this study, we elucidated the direct correlation between HoxA9 expression and progression of leukaemia using 2 different types of leukaemia cells HL-60 and MOLT-3. The HoxA9 expression level was decreased in leukaemia cells with the treatment of all-trans retinoic acid or arsenic trioxide (As2 O3 )...
September 29, 2017: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/28956754/a-uorf-represses-the-transcription-factor-athb1-in-aerial-tissues-to-avoid-a-deleterious-phenotype
#16
Pamela A Ribone, Matías Capella, Agustín Lucas Arce, Raquel Lia Chan
AtHB1 is an Arabidopsis homeodomain-leucine zipper transcription factor that participates in hypocotyl elongation under short day conditions. Here we show that its expression is post-transcriptionally regulated by an upstream open reading frame (uORF) located in its 5' UTR. This uORF encodes a highly conserved peptide (CPuORF), present in varied monocot and dicot species. The Arabidopsis uORF and its maize homolog repressed the translation of the main ORF in cis, independent of the sequence of the latter. Published ribosome footprinting results and the analysis of a frame shifted uORF, in which the repression capability was lost, indicated that the uORF causes ribosome stalling...
September 27, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28947713/a-missense-mutation-of-hoxa13-underlies-hand-foot-genital-syndrome-in-a-chinese-family
#17
Lihua Cao, Chen Chen, Yunji Leng, Lulu Yan, Shusen Wang, Xue Zhang, Yang Luo
Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability of HOXA13 to activate transcription of the human EPHA7 promoter...
September 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28935672/the-dux4-homeodomains-mediate-inhibition-of-myogenesis-and-are-functionally-exchangeable-with-the-pax7-homeodomain
#18
Darko Bosnakovski, Erik A Toso, Lynn M Hartweck, Alessandro Magli, Heather A Lee, Eliza R Thompson, Abhijit Dandapat, Rita C R Perlingeiro, Michael Kyba
Facioscapulohumeral muscular dystrophy (FSHD) is caused by inappropriate expression of the double homeodomain protein, DUX4. DUX4 has bimodal effects, inhibiting myogenic differentiation and blocking MyoD at low levels of expression, and killing myoblasts at high levels. Pax3 and Pax7, which contain related homeodomains, antagonize the cell death phenotype of DUX4 in C2C12 cells, suggesting some type of competitive interaction. Here, we show that effects on differentiation and MyoD expression require the homeodomains but do not require the C-terminal activation domain of DUX4...
September 21, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28933666/regulation-of-proliferation-in-developing-human-tooth-germs-by-msx-muscle-segment-homeodomain-proteins-and-cyclin-dependent-kinase-inhibitor-p19-ink4d
#19
Darko Kero, Katarina Vukojevic, Petra Stazic, Danijela Sundov, Snjezana Mardesic Brakus, Mirna Saraga-Babic
Before the secretion of hard dental tissues, tooth germs undergo several distinctive stages of development (dental lamina, bud, cap and bell). Every stage is characterized by specific proliferation patterns, which is regulated by various morphogens, growth factors and homeodomain proteins. The role of MSX homeodomain proteins in odontogenesis is rather complex. Expression domains of genes encoding for murine Msx1/2 during development are observed in tissues containing highly proliferative progenitor cells. Arrest of tooth development in Msx knockout mice can be attributed to impaired proliferation of progenitor cells...
September 21, 2017: Organogenesis
https://www.readbyqxmd.com/read/28932414/hox-gene-cluster-of-the-ascidian-halocynthia-roretzi-reveals-multiple-ancient-steps-of-cluster-disintegration-during-ascidian-evolution
#20
Yuka Sekigami, Takuya Kobayashi, Ai Omi, Koki Nishitsuji, Tetsuro Ikuta, Asao Fujiyama, Noriyuki Satoh, Hidetoshi Saiga
BACKGROUND: Hox gene clusters with at least 13 paralog group (PG) members are common in vertebrate genomes and in that of amphioxus. Ascidians, which belong to the subphylum Tunicata (Urochordata), are phylogenetically positioned between vertebrates and amphioxus, and traditionally divided into two groups: the Pleurogona and the Enterogona. An enterogonan ascidian, Ciona intestinalis (Ci), possesses nine Hox genes localized on two chromosomes; thus, the Hox gene cluster is disintegrated...
2017: Zoological Letters
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