The Mouse Frizzy (Fr) And Rat ‘Hairless’ (FrCR) Mutations Are Natural Variants Of Protease Serine S1 Family Member 8 (Prss8)

February 2010 in “ Experimental Dermatology ”

Damek V. Spacek, Amarilis F. Perez, Katelynn Ferranti, Lillya K.‐L. Wu, Daniel M. Moy, David Magnan, Thomas R. King

protease serine S1 family member 8 Prss8 frizzy mutation hairless mutation T to A transversion valine to aspartate substitution 12-bp deletion

TLDR The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

The study investigated the genetic basis of the mouse frizzy (fr) and rat ‘hairless’ (fr CR) mutations, identifying them as natural variants of the protease serine S1 family member 8 (Prss8). Researchers focused on a 0.6-Mb region containing fewer than 30 genes and discovered a T to A transversion in Prss8 associated with the fr allele, leading to a valine to aspartate substitution. Crossbreeding experiments confirmed that this mutation was responsible for the frizzy phenotype. Additionally, a 12-bp deletion in the Prss8 gene of the ‘hairless’ rat was identified, confirming the orthologous nature of these mutations. However, no changes were found in the Prss8 coding sequences of the ‘fuzzy’ rat variant.

View this study on doi.org →

Discuss this study in the Community →

Research cited in this study

10 / 10 results

research Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

55 citations , April 2008 in “Clinical Genetics”

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

research Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice

101 citations , October 2007 in “Journal of Biological Chemistry”

Reduced matriptase activity causes skin and hair issues in both humans and mice.

research Premature Termination of Hair Follicle Morphogenesis and Accelerated Hair Follicle Cycling in Iasi Congenital Atrichia (fzica) Mice Points to Fuzzy as a Key Element of Hair Cycle Control

20 citations , July 2005 in “Experimental dermatology”

The fuzzy gene is crucial for controlling hair growth cycles.

research Epidermal Differentiation: The Role of Proteases and Their Inhibitors

118 citations , January 2004 in “European Journal of Cell Biology”

research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in Nackt Mice, a Cathepsin L-Deficient Mutation

57 citations , August 2002 in “American Journal Of Pathology”

Cathepsin L deficiency causes hair and skin issues in mice.

research Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis

324 citations , May 2002 in “Oncogene”

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 Basement Membrane Zone Remodeling During Appendageal Development in Human Fetal Skin: The Absence of Type VII Collagen Is Associated with Gelatinase-A (MMP2) Activity

42 citations , February 2000 in “Journal of Investigative Dermatology”

research The Hairless Gene of the Mouse: Relationship of Phenotypic Effects with Expression Profile and Genotype

52 citations , October 1999 in “Developmental Dynamics”

Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.

research The mRNA for Protease Nexin-1 is Expressed in Human Dermal Papilla Cells and its Level is Affected by Androgen

27 citations , September 1999 in “Journal of Investigative Dermatology”

Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.

Related Community Posts Join

3 / 3 results

Physio-metabolic method of treating androgenic alopecia. Cold receptors. The relationship between DHT, cold receptors, minoxidil and antiandrogens

community Physio-metabolic method of treating androgenic alopecia. Cold receptors. The relationship between DHT, cold receptors, minoxidil and antiandrogens

in Research 413 upvotes 11 months ago

Treating androgenic alopecia with minoxidil, finasteride, and antiandrogens, alongside exercise, cryotherapy, and natural substances to stimulate cold receptors for better hair growth. The method focuses on enhancing treatment effectiveness by considering environmental and behavioral factors and the role of cold receptors and muscle stress.

Compressed part of research of theory of androgenic/anabolitic balance. AGA h-responders analytic. Theory of physio-metabolitic method of anti AGA treatment

community Compressed part of research of theory of androgenic/anabolitic balance. AGA h-responders analytic. Theory of physio-metabolitic method of anti AGA treatment

in Research 865 upvotes 1 year ago

The treatment for androgenetic alopecia involves using finasteride and minoxidil with intense exercise and cold exposure to boost metabolism and reduce androgenic effects, potentially leading to hair regrowth. This approach may activate biological pathways for improved hair and overall health.

community Adrogens and Covid-19

in Treatment 7 upvotes 5 years ago

The possible increased risk of severe Covid-19 cases in men due to higher androgen levels, and how taking medications such as finasteride, dutasteride, spironolactone, enzalutamide, or canabidiol might help mitigate the severity of the disease.

Similar Research

5 / 1000+ results

research The Retarded Hair Growth Mutation in Mice Is an Allele of Ornithine Aminotransferase

9 citations , January 2014 in “Molecular Genetics and Metabolism Reports”

The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.

research Polygenic Control of the Wavy Coat of the NCT Mouse: Involvement of an Intracisternal A Particle Insertional Mutation of the Protease, Serine 53 (Prss53) Gene, and a Modifier Gene

January 2022 in “Mammalian Genome”

The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.

research A Genome-Wide Association Scan in Admixed Latin Americans Identifies Loci Influencing Facial and Scalp Hair Features

196 citations , March 2016 in “Nature Communications”

Genetic factors influence hair traits like shape, color, and greying in Latin Americans.

research A Direct Link Between Prss53, Hair Curvature, and Skeletal Dysplasia

February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)”

The gene Prss53 affects hair shape and bone development in rabbits.

research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency

24 citations , July 2014 in “Journal of Investigative Dermatology”

Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.