Human KAP Genes: Only Half of It? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes

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

Michael A. Rogers, Jürgen Schweizer

Studysummary 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.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family

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

This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.

research Identification of Two Novel Clusters of Ultrahigh-Sulfur Keratin-Associated Protein Genes on Human Chromosome 11

27 citations , April 2004 in “Biochemical and Biophysical Research Communications”

In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.

research A Cluster of 21 Keratin-Associated Protein Genes Within Introns of Another Gene on Human Chromosome 21q22.3

34 citations , January 2004 in “Genomics”

In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.

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 21 in 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 Characterization of Human Keratin-Associated Protein 1 Family Members

17 citations , June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.

research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-Associated Protein Genes on Chromosome 21q22.1

100 citations , December 2002 in “Journal of biological chemistry/The Journal of biological chemistry”

This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.

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 HKAP1.6 And HKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins Are Expressed In The Hair Follicle Cortex

24 citations , February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations , June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

research Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix

130 citations , April 2001 in “Journal of Investigative Dermatology”

This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.

research Formation and Structure of Human Hair

175 citations , January 1995 in “Birkhäuser Basel eBooks”

This review examines the histochemistry and keratinization processes of human hair, exploring the structural roles of keratin proteins, protein chains, and lipids, but offers no new results.