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Glossary Hair Keratin Genes

segments of DNA that produce keratin for hair structure

Hair keratin genes are segments of DNA that encode for keratin proteins, which are essential structural components of hair. These genes determine the strength, texture, and growth patterns of hair by directing the production of keratin, a fibrous protein that forms the main structural constituent of hair, nails, and the outer layer of skin.

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research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia

114 citations , May 2001 in “Development”

This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.

research Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype

75 citations , April 2000 in “Developmental Dynamics”

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

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 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 Genetically separable determinants of hair keratin gene expression

27 citations , January 2000 in “Developmental Dynamics”

This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.

research Chromosomal Localization of Mouse Hair Keratin Genes^a

21 citations , December 1991 in “Annals of the New York Academy of Sciences”

This study suggests that hair keratin gene mutations in mice may be linked to specific loci on chromosomes 11 and 15, potentially influencing keratin expression or structure.

research Sequence and expression of human hair keratin genes

19 citations , July 1994 in “Journal of Dermatological Science”

This study identified and characterized human hair-specific keratin genes, revealing their sequence homology with mouse counterparts and expression in hair follicle precortical cells.

research Transcriptional activation of a subset of hair keratin genes by the NF-κB effector p65/RelA

7 citations , November 2007 in “Differentiation”

This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.

research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82

June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.

DNA Dioxygenases Tet1/2/3 Control Hair Matrix Keratinocyte Differentiation and Hair Shaft Shape via Regulation of Hair Keratin Gene Expression

research 764 DNA dioxygenases Tet1/2/3 control hair matrix keratinocyte differentiation and hair shaft shape via regulation of hair keratin gene expression

June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that genetic ablation of Tet genes in mice led to changes in hair structure and keratin gene expression, indicating a role for Tet-mediated 5hmC DNA oxidation in hair follicle development and cycling.

research UNRAVELING MINK HAIR KERATIN GENES

July 2024

This study reported that genome sequencing and analysis of mink hair keratin genes reveal the amino acid composition of key proteins and offer insights into fur biosynthesis, potentially aiding conservation efforts through transgenic animal design to produce mink fur and help save endangered mink species.

Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert

research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.

62 citations , January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

60 citations , March 2006 in “Journal of Medical Genetics”

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes

53 citations , June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.

research Increased rate of hair keratin gene loss in the cetacean lineage

42 citations , January 2014 in “BMC Genomics”

This study highlights the loss of hair-type keratin genes in cetaceans compared to terrestrial mammals, suggesting a potential adaptive role linked to their hairless phenotype and habitat changes.

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 The keratin proteins and genes of wool and hair.

15 citations , January 1996 in “Adelaide Research & Scholarship (AR&S) (University of Adelaide)”

This review discusses the structural knowledge of wool keratin proteins and genes, reports no new findings, and highlights promising directions such as keratin gene regulation.

research Genetic and biochemical aspects of the synthesis of keratin by hair follicles

5 citations , February 2007 in “Cytology and genetics”

This review summarizes advances in understanding the genetic regulation of keratin synthesis in hair follicles and reports no new experimental results.

research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

3 citations , February 2011 in “Journal of Biomedical Research/Journal of biomedical research”

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

research Characterization of Hair Follicles in Hirosaki Hairless Rats with Deletion of Basic Hair Keratin Genes. Enlarged Medulla, Loss of Cuticle and Long Catagen

3 citations , March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)”

This study in hairless rats suggests that the deletion of specific hair keratin genes contributes to hypotrichosis and highlights the strain's potential as a model for hair follicle research.

research Sequence of a Cashmere goat type I hair keratin gene and its expression in skin

3 citations , December 2008 in “Frontiers of Agriculture in China”

This study identified and sequenced a goat hair keratin cDNA that matches closely with its sheep counterpart, showing strong expression in hair follicle cortex.

research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

2 citations , April 2008 in “PubMed”

This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.

research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

78 citations , May 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes woolly hair and hair loss.

research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting

8 citations , December 2003 in “Experimental Dermatology”

In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.

research Regulation of Keratin Gene Expression in Hair Follicle Differentiation^a

98 citations , December 1991 in “Annals of the New York Academy of Sciences”

This study found that conserved DNA motifs and expression patterns in keratin genes suggest functional regulatory similarities in hair follicle differentiation across different mammalian species.

The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain

research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain

70 citations , December 2004 in “Differentiation”

This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.

research Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family

52 citations , April 2012 in “Journal of Investigative Dermatology”

This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.

research Androgen Regulation of the Human Hair Follicle: The Type I Hair Keratin hHa7 Is a Direct Target Gene in Trichocytes

49 citations , March 2004 in “Journal of Investigative Dermatology”

This study found that the hHa7 gene in hair follicle trichocytes is the first identified to have its expression directly regulated by androgens, suggesting it as a marker for androgen action on hair follicles.

research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family

48 citations , November 2002 in “Journal of biological chemistry/The Journal of biological chemistry”

In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.

research Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13

47 citations , September 2004 in “Journal of Biological Chemistry”

This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.