Presentation is loading. Please wait.

Presentation is loading. Please wait.

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture  Yutaka Shimomura, Muhammad.

Published byElias de Wit Modified over 5 years ago

Similar presentations

Presentation on theme: "Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture  Yutaka Shimomura, Muhammad."— Presentation transcript:

1 Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture  Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova, Mazen Kurban, Angela M. Christiano  The American Journal of Human Genetics  Volume 86, Issue 4, Pages (April 2010) DOI: /j.ajhg Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Fine Mapping of ADWH Phenotype on Chromosome 12q12-q14.1
(A–C) Clinical appearance of ADWH. (D–G) Appearance of the hair shaft in affected individuals with ADWH. The scale bar represents 100 μm. (H) Pedigree and haplotype analysis of a Pakistani family ADWH1. The linked haplotype is indicated in red. Critical recombination events are indicated by black arrowheads. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Identification of a Mutation in the KRT74 Gene
(A) Schematic representation of the candidate region harboring the ADWH gene. The candidate region and the type II keratin gene cluster are boxed in yellow and red, respectively, and localization of four IRS-specific keratin genes, KRT71–74, is shown at the bottom. (B) A heterozygous mutation c.444C > G (p.Asn148Lys) in the KRT74 gene in affected individuals from the family ADWH1. (C) Segregation analysis of the mutation c.444C > G in the KRT74 gene. PCR products of 338 bp from the mutant (Mut) allele were digested into 234 bp and 104 bp fragments with the restriction enzyme AcuI, whereas those from the wild-type (Wt) allele were not digested. Affected individuals are indicated in red and show the digested bands of 234 bp and 104 bp from the Mut allele as well as the undigested band of 338 bp from the Wt allele. MWM, molecular weight markers. C, control individual. (D) Multiple-amino-acid sequence alignment of the helix initiation motif (HIM) of human type II keratins. K74 (K6irs4) is indicated in red. The Asn residue at amino acid position 9 in the HIM, which is invariant and completely conserved among all human type II keratins, is highlighted in yellow. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Mutant K74 Protein Disrupts Endogenous KIF Formation in PtK2 Cells, and K74 Colocalizes with LPAR6 in Huxley's Layer of Human Hair Follicles (A–C) Ectopically expressed wild-type (Wt) K74 protein forms a KIF network via heterodimerization with endogenous K18 protein. (D–F) The p.Asn148Lys mutant (Mut) K74 protein causes a collapse of the endogenous KIF network around the nucleus. (G–I) Double immunostainings with guinea pig polyclonal anti-K74 (1:2,000) (G) and rabbit polyclonal anti-P2Y5 (LPAR6; 1:200; MBL International) (H) antibodies show that both K74 and LPAR6 proteins are coexpressed in Huxley's (Hux) layer of the IRS of human hair follicles from a normal control individual (I), whereas only LPAR6 is expressed in Henle's (He) layer of the IRS (I). The right panels are merged images, and counterstaining with DAPI is shown in blue (C, F, and I). Scale bars represent 20 μm (A) and 100 μm (G). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Download ppt "Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture  Yutaka Shimomura, Muhammad."

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,
A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family  Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family  Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,
Novel Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-β Binding Protein-1L Promoter  Tomomi Higashi, Satoru Kyo, Masaki.

Novel Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-β Binding Protein-1L Promoter  Tomomi Higashi, Satoru Kyo, Masaki.
Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.
Characterization of the Human Hair Shaft Cuticle–Specific Keratin-Associated Protein 10 Family  Hiroki Fujikawa, Atsushi Fujimoto, Muhammad Farooq, Masaaki.

Characterization of the Human Hair Shaft Cuticle–Specific Keratin-Associated Protein 10 Family  Hiroki Fujikawa, Atsushi Fujimoto, Muhammad Farooq, Masaaki.
Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4  S. Amer Riazuddin, Shivakumar Vasanth,

Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4  S. Amer Riazuddin, Shivakumar Vasanth,
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.
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter– Tonz Syndrome  Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy,

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter– Tonz Syndrome  Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy,
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis  Agnes L. Nishimura, Miguel.

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis  Agnes L. Nishimura, Miguel.
Volume 14, Issue 5, Pages (March 2004)

Volume 14, Issue 5, Pages (March 2004)
Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia  Alexandre Irrthum,

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia  Alexandre Irrthum,
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,
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,
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function  Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann,

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function  Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann,
Volume 12, Issue 7, Pages (April 2002)

Volume 12, Issue 7, Pages (April 2002)
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I  Christian Guelly, Peng-Peng.

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I  Christian Guelly, Peng-Peng.
Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia  Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.
TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy  Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola.

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy  Antonio Falace, Fabia Filipello, Veronica La Padula, Nicola.
HKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex  Yutaka Shimomura, Noriaki Aoki,

HKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex  Yutaka Shimomura, Noriaki Aoki,
Volume 11, Issue 4, Pages (April 2003)

Volume 11, Issue 4, Pages (April 2003)

Similar presentations

Ads by Google