Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant

June 2012 in “ PloS one ”

Fabian Runkel, Maik Hintze, Sebastian Griesing, Marion Michels, Birgit Blanck, Kiyoko Fukami, Jean‐Louis Guénet, Thomas Franz

alopecia phospholipase C delta 1 Plcd1 phospholipase C delta 3 Plcd3 hair loss hair follicle hair shaft proliferation phase hair follicle matrix cells

TLDR Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.

The study investigated the effects of mutations in phospholipase C delta 1 (Plcd1) and phospholipase C delta 3 (Plcd3) on hair loss in mice. While inactivation of Plcd1 alone caused alopecia and Plcd3 alone had no apparent effect, a novel Plcd3 mutation (Plcd3(mNab)) exacerbated the alopecia caused by Plcd1 loss. Mice with both mutations exhibited total alopecia, fragile hair shafts, altered expression of structural genes, and shortened proliferation phases in hair follicle matrix cells. This suggested that Plcd1 and Plcd3 have synergistic effects on hair follicles in specific body regions.

View this study on journals.plos.org →

Discuss this study in the Community →

Research cited in this study

25 / 25 results

research Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling

499 citations , September 2011 in “Cell”

Fat-related cells are important for initiating hair growth.

research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation

68 citations , December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology”

HOXC13 is essential for hair and nail development by regulating Foxn1.

research The Hair Follicle as a Dynamic Mini-Organ

759 citations , February 2009 in “Current Biology”

Hair follicles are complex, dynamic mini-organs that help us understand cell growth, death, migration, and differentiation, as well as tissue regeneration and tumor biology.

research Phospholipase C-δ1 Is an Essential Molecule Downstream of Foxn1, the Gene Responsible for the Nude Mutation, in Normal Hair Development

54 citations , October 2007 in “The FASEB Journal”

Phospholipase C-δ1 is crucial for normal hair development.

Evidence That the Satin Hair Mutant Gene Foxq1 Is Among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 During Hair Follicle Differentiation

research Evidence That the Satin Hair Mutant Gene Foxq1 Is Among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 During Hair Follicle Differentiation

65 citations , July 2006 in “Journal of biological chemistry/The Journal of biological chemistry”

The gene Foxq1, controlled by Hoxc13, is crucial for hair follicle differentiation.

research PDGF Isoforms Induce and Maintain Anagen Phase of Murine Hair Follicles

136 citations , June 2006 in “Journal of Dermatological Science”

PDGF isoforms can promote and sustain hair growth.

research Human Hair Keratin-Associated Proteins

226 citations , January 2006 in “International review of cytology”

Keratin-associated proteins are crucial for hair strength and structure.

research Analysis of Hair Follicles in Mutant Laboratory Mice

38 citations , November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

Understanding normal hair follicle development helps analyze abnormalities in mutant mice.

research The HOXC13-Controlled Expression of Early Hair Keratin Genes in the Human Hair Follicle Does Not Involve TALE Proteins MEIS and PREP as Cofactors

18 citations , November 2005 in “Archives of Dermatological Research”

research Learning From Nudity: Lessons From The Nude Phenotype

86 citations , October 2005 in “Experimental Dermatology”

The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.

research Human Hair Keratin-Associated Proteins

71 citations , August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.

research Keratins of the Human Hair Follicle

276 citations , January 2005 in “International review of cytology”

More research is needed to understand how hair keratins work and their role in hair disorders.

research BMP Signaling in the Control of Skin Development and Hair Follicle Growth

165 citations , December 2004 in “Differentiation”

BMP signaling is crucial for skin and hair growth.

research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice

58 citations , November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

The Foxn1 gene is essential for normal nail and hair development.

research Krtap16: Characterization of a New Hair Keratin-Associated Protein Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13

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

Hoxc13 regulates specific hair protein genes on mouse chromosome 16.

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”

A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.

research Phospholipase Cδ1 Is Required for Skin Stem Cell Lineage Commitment

101 citations , June 2003 in “The EMBO Journal”

Phospholipase Cδ1 is crucial for normal skin and hair development.

research Hox in Hair Growth and Development

98 citations , April 2003 in “Die Naturwissenschaften”

research Bone Morphogenetic Proteins and Their Antagonists in Skin and Hair Follicle Biology

176 citations , January 2003 in “Journal of Investigative Dermatology”

Bone Morphogenetic Proteins (BMPs) help control skin health, hair growth, and color, and could potentially be used to treat skin and hair disorders.

research Cyclic Alopecia in Msx2 Mutants: Defects in Hair Cycling and Hair Shaft Differentiation

158 citations , December 2002 in “Development”

Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

132 citations , February 2002 in “Journal of Biological Chemistry”

HOXC13 is crucial for regulating hair keratin genes in hair follicles.

research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: Annotated Tables

86 citations , December 2001 in “Experimental dermatology”

Mutant mice help researchers understand hair growth and related genetic factors.

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”

Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.

research Inhibition of BMP Signaling Affects Growth and Differentiation in the Anagen Hair Follicle

305 citations , December 2000 in “The EMBO Journal”

Inhibiting Bmp signaling disrupts hair growth and differentiation.

research Hoxc13 Mutant Mice Lack External Hair

245 citations , January 1998 in “Genes & Development”

Hoxc13 gene is essential for hair, nail, and papilla development.

Similar Research

5 / 1000+ results

Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant

Research cited in this study

research Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling

research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation

research The Hair Follicle as a Dynamic Mini-Organ

research Phospholipase C-δ1 Is an Essential Molecule Downstream of Foxn1, the Gene Responsible for the Nude Mutation, in Normal Hair Development

research Evidence That the Satin Hair Mutant Gene Foxq1 Is Among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 During Hair Follicle Differentiation

research PDGF Isoforms Induce and Maintain Anagen Phase of Murine Hair Follicles

research Human Hair Keratin-Associated Proteins

research Analysis of Hair Follicles in Mutant Laboratory Mice

research The HOXC13-Controlled Expression of Early Hair Keratin Genes in the Human Hair Follicle Does Not Involve TALE Proteins MEIS and PREP as Cofactors

research Learning From Nudity: Lessons From The Nude Phenotype

research Human Hair Keratin-Associated Proteins

research Keratins of the Human Hair Follicle

research BMP Signaling in the Control of Skin Development and Hair Follicle Growth

research FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice

research Krtap16: Characterization of a New Hair Keratin-Associated Protein Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13

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

research Phospholipase Cδ1 Is Required for Skin Stem Cell Lineage Commitment

research Hox in Hair Growth and Development

research Bone Morphogenetic Proteins and Their Antagonists in Skin and Hair Follicle Biology

research Cyclic Alopecia in Msx2 Mutants: Defects in Hair Cycling and Hair Shaft Differentiation

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: Annotated Tables

research Overexpression of Hoxc13 in Differentiating Keratinocytes Results in Downregulation of a Novel Hair Keratin Gene Cluster and Alopecia

research Inhibition of BMP Signaling Affects Growth and Differentiation in the Anagen Hair Follicle

research Hoxc13 Mutant Mice Lack External Hair

Related Community Posts Join

community I’ve been on Oral min and Dutasteride for 6 months.

community Shedding again after 6 months of great results.

community My experience with rosemary oil

community Can I punch someone if they make fun of my hair loss, just like Will Smith did?

community Could you tell this is a hair system?

community 11 months on fin only. Regrowth + thickness

Similar Research

research Protein Profiling of Forehead Epidermal Corneocytes Distinguishes Frontal Fibrosing From Androgenetic Alopecia

research CRISPR/Cas9: A Promising Approach for Alopecia

research Clinicopathological Factors Associated With Trichilemmal Cysts

research Revolutionary Approaches to Hair Regrowth: Follicle Neogenesis, Wnt/β-Catenin Signaling, and Emerging Therapies

research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease