Presentation is loading. Please wait.

Presentation is loading. Please wait.

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa  Abdul Noor, Christian Windpassinger,

Published byTobias de Coninck Modified over 5 years ago

Similar presentations

Presentation on theme: "CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa  Abdul Noor, Christian Windpassinger,"— Presentation transcript:

1 CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa  Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub  The American Journal of Human Genetics  Volume 82, Issue 4, Pages (April 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree Showing Three Branches of the Family from Mianwali District, Punjab Province, Pakistan Filled symbols indicate individuals affected with mental retardation. The quarter-filled symbol, highlighted within a red box, indicates the patient with mental retardation but subsequently determined to have tetrasomy X. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Ideogrammatic Representation of the Mutation Region on 4p15.33 (A) Position of the 11.2 Mb common homozygous stretch on 4p15. and the organization of various known genes within this region. (B) The intron 19 donor splice-site mutation sequence, with wild-type, followed by carrier (heterozygote) sequence and the homozygous mutation from affected individuals. (C) The genomic organization of CC2D2A and the consequence of the mutation, namely the splicing out of exon 19, which results in a shift of reading frame leading to 13 nonsense amino acids followed by a stop codon, thus prematurely truncating the protein at this point. Sequence analysis was performed with BigDye Terminator v3.1 Cycle Sequencing (Applied Biosystems). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Haplotype Analysis
Markers are shown in red, and haplotypes within a red box indicate the disease haplotype shared between affected individuals (homozygous) and carriers (heterozygous). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Tissue Transcription Analysis of CC2D2A
RT-PCR expression analysis with a multiple-tissue panel of normalized first-strand cDNA (Clontech) for CC2DA (top) and housekeeping gene G3PDH, which was run as a control (bottom). For RT-PCR amplification, we used a forward primer from exon 18 (5′-ACAGTCAGTCGGCCACTAGG-3′) and a reverse primer from exon 25 (5′- GTTCTGCCAGCTTGAAAAGG-3′) with PCR product size of 963 bp. A 100 bp size ladder is shown to the left. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

6 Figure 5 Comparative Protein Sequence Analysis of CC2D2A
Boxshade alignments for (A) a section of the C2 domain (residues 1099 to 1202 of the human protein) and (B) a section of the C-terminal region (1280–1463). A selection of sequences from 11 representative species (out of 18 studied) across the evolutionary spectrum are shown. Alignment with the C-terminal region of the human paralogue, CC2D2B, is also shown; however, no homology was detected with the C2 region. The upstream half of the C2 region is not shown because sections of this region are not present in some lower-order vertebrates and nonvertebrates. Also, only a portion of the C-terminal region is shown, for the sake of succinctness. Residues that were conserved across all 18 species analyzed (including those not included in the figure: chimp, horse, cow, rat, tetraodon, zebrafish, and Drosophila) are marked with an asterisk. Accession numbers for sequences used are as follows in parentheses: chimpanzee (XM_526530), rhesus monkey (XM_ ), horse (XM_ ), cow (UPI0000F333EB), dog (UPI0000EB4478), mouse (NM_172274), rat (XM_ ), opossum (XM_ ), chicken (XM_420777), Xenopus (BC077972), zebrafish (XM_693709), fugu (NEWSINFRUT ), tetraodon (GSTENT ), sea urchin (XM_775975), fruitfly (NM_137386), mosquito (XM_ ), and nematode (NM_059625). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Download ppt "CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa  Abdul Noor, Christian Windpassinger,"

Similar presentations

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal- Recessive Intellectual Disability  Muzammil Ahmad Khan, Muhammad Arshad Rafiq,

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal- Recessive Intellectual Disability  Muzammil Ahmad Khan, Muhammad Arshad Rafiq,
Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.
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.
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness  Sedigheh.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness  Sedigheh.
Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  Jose Morales, Latifa.

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  Jose Morales, Latifa.
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,
Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A
Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)  Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz,

Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease)  Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz,
Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,
The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency

The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency
Jacquelyn Bond, Sheila Scott, Daniel J

Jacquelyn Bond, Sheila Scott, Daniel J
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular.
Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4  Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger,

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4  Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger,
Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal- Recessive Retinitis Pigmentosa  Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier,

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal- Recessive Retinitis Pigmentosa  Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier,
Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F.

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F.
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.
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1  Velina Guergueltcheva, Dimitar N. Azmanov,

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1  Velina Guergueltcheva, Dimitar N. Azmanov,
Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D

Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D
Volume 54, Issue 3, Pages (September 1998)

Volume 54, Issue 3, Pages (September 1998)

Similar presentations

Ads by Google