Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

December 1999 in “ Journal of Investigative Dermatology ”

Eve G. Pearce, S. K. Smith, Paul E. Bowden, Sean W. Lanigan

monilethrix hHb6 type II hair keratin point mutations glutamine substitution lysine substitution Taq I restriction site RFLP analysis keratin mutations

Studysummary Mutations in the hHb6 gene cause the hair disorder monilethrix.

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Research cited in this study

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research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

34 citations , November 1998 in “Journal of Investigative Dermatology”

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

research Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression

26 citations , October 1998 in “Experimental Dermatology”

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

74 citations , October 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.

research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

47 citations , July 1998 in “Journal of Investigative Dermatology”

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

32 citations , February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.

research A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix

100 citations , November 1997 in “Human Genetics”

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

175 citations , August 1997 in “Nature Genetics”

research Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins

61 citations , February 1997 in “Differentiation”

Hair differentiation starts earlier than thought, involving multiple type-II keratins.

research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5

33 citations , October 1996 in “Journal of Investigative Dermatology”

research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13

43 citations , April 1996 in “Journal of Investigative Dermatology”

research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes

52 citations , October 1995 in “Experimental Cell Research”

Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.

research A cDNA Encoding the Human Type I Hair Keratin hHa1

20 citations , October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression”

hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.

research A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13

54 citations , January 1995 in “Human Molecular Genetics”

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

research A Novel Human Type I Hair Keratin Gene: Evidence For Two Keratin HHa3 Isoforms

21 citations , January 1995 in “Molecular Biology Reports”

This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.

research Patterns of Expression of Trichocytic and Epithelial Cytokeratins in Mammalian Tissues II: Concomitant and Mutually Exclusive Synthesis of Trichocytic and Epithelial Cytokeratins in Diverse Human and Bovine Tissues (Hair Follicle, Nail Bed and Matrix, Lingual Papilla, Thymic Reticulum)

187 citations , May 1988 in “Differentiation”

This study found that trichocytic cytokeratins, typically found in hair, are also present in nails, filiform papillae of the tongue, and the epithelial reticulum of the thymus.

research Patterns of Expression of Trichocytic and Epithelial Cytokeratins in Mammalian Tissues: Human and Bovine Hair Follicles

248 citations , April 1988 in “Differentiation”

In this study, researchers observed that trichocytic and epithelial cytokeratins have distinct expression patterns within various human and bovine hair follicle cells, contributing to understanding hair follicle development and growth.

research Chapter 3: Expression and Modification of Keratins During Terminal Differentiation of Mammalian Epidermis

81 citations , January 1987 in “Current topics in developmental biology/Current Topics in Developmental Biology”

Keratins change and are modified differently in skin layers and body parts.

research Monilethrix: An Ultrastructural Study

34 citations , December 1984 in “Journal of Cutaneous Pathology”

This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.