Journal ArticleDOI
The human lanosterol synthase gene maps to chromosome 21q22.3.
TLDR
A portion of the human lanosterol synthase cDNA was cloned from a brain cDNA library and determined its nucleotide sequence and the predicted human protein shows 83% identity to its rat and 40% to its yeast homolog.Abstract:
In order to contribute to the development of the transcriptional map of human chromosome 21 (HC21) we have used exon trapping to identify portions of HC21 genes. Using pools of random HC21-specific cosmids from the LL21NC02-Q library and cosmids from 21q22.3 we have identified five different coding regions with strong homology to the lanosterol synthase genes of rat and yeast. This enzyme catalyzes the cyclization of squalene-2,3-epoxide lanosterol, which is the parental compound of all steroids in mammals. Using somatic cell hybrids and HC21 yeast artificial chromosomes (YACS) and cosmids, we mapped the human lanosterol synthase cDNA gene to 2lq22.3 between markers D21S25 and 21qter. Cosmid Q7G8 from the LL21NC02-Q library and YAC 145D8 from the CEPH HC21 contig contain this human gene. We cloned a portion of the human lanosterol synthase cDNA (almost 85% of the coding region) from a brain cDNA library and determined its nucleotide sequence. The predicted human protein shows 83% identity to its rat and 40% to its yeast homolog. No obvious candidate human disease exists for lanosterol synthase deficiency and the role (if any) of triplication of this gene in the various phenotypes of trisomy 21 is unknown.read more
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Holoprosencephaly: a paradigm for the complex genetics of brain development.
TL;DR: Significant aetiological heterogeneity exists in HPE and includes both genetic and environmental causes, and discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis.
Journal ArticleDOI
Activation and suppression of renin-angiotensin system in human dendritic cells.
Natalia Lapteva,Kazuki Ide,Mie Nieda,Yoshitaka Ando,Yoko Hatta-Ohashi,Mutsuhiko Minami,Grigory Dymshits,Koichi Egawa,Takeo Juji,Katsushi Tokunaga +9 more
TL;DR: This is the first study on the modulation of cytokine and gene expression by angiotensin II and captopril in DCs and indicates the possible activation of NF-kappaB through the up-regulation of expressions of MEFV gene and heterogeneous nuclear ribonucleoprotein R inDCs.
Journal ArticleDOI
Molecular genetic approach to the characterization of the ‘Down syndrome region’ of chromosome 21
Journal ArticleDOI
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Thomas Besnard,Natacha Sloboda,Alice Goldenberg,Sébastien Küry,Benjamin Cogné,Flora Breheret,Eva Trochu,Solène Conrad,Marie Vincent,Wallid Deb,Xavier Balguerie,Sébastien Barbarot,Geneviève Baujat,Tawfeg Ben-Omran,Anne-Claire Bursztejn,Virginie Carmignac,Alexandre N. Datta,Aline Delignières,Laurence Faivre,Betty Gardie,Betty Gardie,Jean-Louis Guéant,Paul Kuentz,Marion Lenglet,Marion Lenglet,Marie-Cécile Nassogne,Vincent Ramaekers,Rhonda E. Schnur,Yue Si,Erin Torti,Julien Thevenon,Pierre Vabres,Lionel Van Maldergem,Dorothea Wand,Arnaud Wiedemann,Bertrand Cariou,Richard Redon,Antonin Lamaziere,Stéphane Bézieau,François Feillet,Bertrand Isidor +40 more
TL;DR: The data suggest LSS as a major gene causing a rare recessive neuroectodermal syndrome, formerly named alopecia with mental retardation (APMR) syndrome, is suggested.
References
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Journal ArticleDOI
Basic Local Alignment Search Tool
TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
Journal ArticleDOI
Down syndrome phenotypes: the consequences of chromosomal imbalance
Julie R. Korenberg,Xiao Ning Chen,R. Schipper,Z. Sun,R. Gonsky,S. Gerwehr,N. Carpenter,C. Daumer,P. Dignan,Christine M. Disteche +9 more
TL;DR: Evidence is provided for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation, which strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the phenotypic features.
Journal ArticleDOI
Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.
Alan Buckler,David D. Chang,Sharon L. Graw,J D Brook,Daniel A. Haber,Phillip A. Sharp,David E. Housman +6 more
TL;DR: The sensitivity and ease of the exon amplification method permit screening of 20-40 kilobase pairs of genomic DNA in a single transfection and will be extremely useful for rapid identification of mammalian exons and the genes from which they are derived as well as for the generation of chromosomal transcription maps.
Journal ArticleDOI
Molecular mapping of twenty-four features of Down syndrome on chromosome 21.
Jean-Maurice Delabar,D. Théophile,Zohra Rahmani,Zoubida Chettouh,Jean-Louis Blouin,Marguerite Prieur,Bernard Noel,Pierre-Marie Sinet +7 more
TL;DR: The complex phenotype that constitutes Down syndrome may in large part simply result from the overdosage of only one or a few genes within the DCR and/or region D21S55-MX1.
Journal ArticleDOI
Continuum of overlapping clones spanning the entire human chromosome 21q.
Ilya Chumakov,Philippe Rigault,Sophie Guillou,Pierre Ougen,Alain Billaut,Ghislaine Guasconi,Patricia Gervy,Isabelle LeGall,Pascal Soularue,Laurent Grinas,Lydie Bougueleret,C. Bellanné-Chantelot,Bruno Lacroix,Emmanuel Barillot,Philippe Gesnouin,Stuart Pook,Guy Vaysseix,Gerard Frelat,Annette Schmitz,Jean Luc Sambucy,Assumpció Bosch,Xavier Estivill,Jean Weissenbach,Alain Vignal,Harold Riethman,David R. Cox,David Patterson,K. Gardiner,Masahira Hattori,Yoshiyuki Sakaki,Hitoshi Ichikawa,Misao Ohki,Denis Le Paslier,Roland Heilig,Stylianos E. Antonarakis,Daniel Cohen +35 more
TL;DR: A continuous array of overlapping clones covering the entire human chromosome 21q was constructed from human yeast artificial chromosome libraries using sequence-tagged sites as landmarks specifically detected by polymerase chain reaction.