Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F.

Published by Modified over 5 years ago

Similar presentations

Presentation on theme: "Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F."— Presentation transcript:

1 Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Janet Perry, Keiran Raine, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Marie Shaw, Jackie Boyle, Bronwyn Kerr, Gillian Turner, Oliver Quarrell, Trevor Cole, Douglas F. Easton, Richard Wooster, Martin Bobrow, Charles E. Schwartz, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal  The American Journal of Human Genetics  Volume 80, Issue 5, Pages (May 2007) DOI: /513609 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of families with XLMR and mutations in ZDHHC9. Individuals marked with an asterisk (*) carry the mutant allele in each family. Carrier females who have been shown to be heterozygous for the wild-type allele and the mutation are labeled “het.” Representative sequence chromatograms of wild-type and mutant sequences are shown below each pedigree. n.a. = no sample was available for testing; wt = wild-type sequence. The American Journal of Human Genetics  , DOI: ( /513609) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

3 Figure 2 a, RT-PCR analysis of the ZDHHC9 gene by use of lymphocyte RNA from an affected male individual in family 602 and an unaffected control. A 547-bp PCR product was identified from cDNA made from control cells containing sequence from exons 2–4, by use of the predicted splice junctions. In family 602, only a 407-bp PCR product was identified. b, Diagram of the cDNA detected in family 602, which included an upstream splice-donor site, resulting in the loss of 140 bp at the terminus of exon 2, and the sequence chromatogram of the novel splicing event, leading to the mutation. c, Effect of the upstream splice-donor site within exon 2 spliced to exon 3. This results in a frameshift and truncated protein p.T11fsX33. The American Journal of Human Genetics  , DOI: ( /513609) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Sequence alignment of the conserved palmitoyltransferase active site of proteins ZDHHC9, ZDHHC14, and ZDHHC5 in multiple species (Homo sapiens, Canis familiaris, Mus musculus, Gallus gallus, Danio rerio, Xenopus laevis, Tetraodon nigroviridis, Drosophila melanogaster, Caenorhabditis elegans, Neurospora crassa, and Saccharomyces cerevisiae). Sequence alignment was performed using ClustalW. Conserved amino acid residues are highlighted in yellow, and the two missense mutations are identified in red. The American Journal of Human Genetics  , DOI: ( /513609) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

5 Figure 4 a, Diagrammatic representation of the exon structure of ZDHHC9, with positions of mutations found in families with XLMR. Exons that are translated are indicated by yellow shading. b, Diagrammatic representation of the protein ZDHHC9, with the palmitoyltransferase domain indicated by green shading. The location of the amino acid changes in the protein due to mutations in ZDHHC9 are indicated by arrows. The family numbers are in parentheses. The American Journal of Human Genetics  , DOI: ( /513609) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Download ppt "Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F."

Similar presentations

Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human.

Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human.
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.
Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A  Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A  Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,
Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations  Jennifer.

Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations  Jennifer.
A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family  Karel.

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family  Karel.
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Volume 16, Issue 9, Pages (May 2006)

Volume 16, Issue 9, Pages (May 2006)
Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia  Eri Arikawa-Hirasawa,

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia  Eri Arikawa-Hirasawa,
Functional Consequences of PRODH Missense Mutations

Functional Consequences of PRODH Missense Mutations
Michael Field, Patrick S

Michael Field, Patrick S
A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation  Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation  Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or.

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or.
Volume 54, Issue 3, Pages (September 1998)

Volume 54, Issue 3, Pages (September 1998)
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3  Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3  Tarja Joensuu, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara.
Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy  Zhenlin Zhang, Weibo Xia, Jinwei He, Zeng Zhang, Yaohua.

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy  Zhenlin Zhang, Weibo Xia, Jinwei He, Zeng Zhang, Yaohua.
Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures,

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures,
Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome  Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi,

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome  Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi,
(A) Six missense mutations in six essential genes that are not in annotated functional domains. (A) Six missense mutations in six essential genes that.

(A) Six missense mutations in six essential genes that are not in annotated functional domains. (A) Six missense mutations in six essential genes that.
Volume 117, Issue 3, Pages (September 1999)

Volume 117, Issue 3, Pages (September 1999)

Similar presentations

Ads by Google