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Glossary Chromosome 17

contains genes crucial for cell growth and DNA repair

Chromosome 17 is one of the 23 pairs of chromosomes in humans and contains approximately 83 million base pairs, which represent about 2.5% of the total DNA in cells. It is notable for housing several important genes, including those related to the production of proteins involved in cell growth, DNA repair, and the development of the nervous system. Mutations or alterations in genes on Chromosome 17 can lead to various medical conditions, such as certain types of cancer and neurological disorders.

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research A group of type I keratin genes on human chromosome 17: characterization and expression.

141 citations , February 1988 in “Molecular and Cellular Biology”

This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.

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 Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5

29 citations , January 2003 in “Genomics”

A new mouse mutation causes skin and hair issues, influenced by another gene.

research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects

22 citations , March 1994 in “Journal of Heredity”

In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.

research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity

21 citations , September 1997 in “British Journal of Dermatology”

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

research Insertional mutation of the hairless locus on mouse Chromosome 14

19 citations , November 1993 in “Mammalian Genome”

This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.

research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?

9 citations , February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology”

This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.

research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family

7 citations , May 2010 in “Journal of Cutaneous Pathology”

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

research Several variants on chromosome 10 are associated with coarse hair diameter in Dazu black goats (Capra hircus)

3 citations , January 2025 in “Animal Genetics”

In this study, researchers conducting a genome-wide association study on 263 adult female goats identified significant genomic variants linked to coarse hair diameter, particularly emphasizing a crucial region on Chromosome 10. These findings enhance understanding of the genetic factors influencing fiber diameter in goats.

research DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA

3 citations , December 2013 in “Balkan Journal of Medical Genetics”

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

research The Shaven (Sha) Mutation, Chromosome 15

1 citations , August 2020

This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.

research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

December 2022 in “American journal of medical genetics. Part A”

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

research The Naked (N) Mutation, Chromosome 15

August 2020

This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.

research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24

April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis

research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

5 citations , May 2011 in “European Journal of Medical Genetics”

This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.

research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21

January 1993

This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.

research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) 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 Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26

62 citations , March 2008 in “American Journal of Human Genetics”

This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.

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 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.

research A case of ophiasis type of alopecia areata in a patient with ring chromosome 18 syndrome

June 2014 in “The Journal of Dermatology”

This article describes a case of a patient with both ophiasis-type alopecia areata and ring chromosome 18 syndrome but reports no new research findings.

research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness

51 citations , November 2011 in “British Journal of Dermatology”

This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.

research Complex X chromosome rearrangement associated with multiorgan autoimmunity

8 citations , July 2015 in “Molecular cytogenetics”

This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.

research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2

2 citations , March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study strongly suggests that a distinct form of hereditary localized alopecia in a Chinese family is linked to a novel locus on chromosome 2p25.1–2p23.2.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research The Majority of Multipotent Epidermal Stem Cells Do Not Protect Their Genome by Asymmetrical Chromosome Segregation

61 citations , September 2008 in “Stem Cells”

This study found that DNA strand segregation in multipotent hair follicle stem cells occurs randomly during development and tissue homeostasis, challenging the immortal strand hypothesis.

research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle

51 citations , January 2007 in “Animal Genetics”

This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.

research Do Changes in Chromosomes Cause Aging?

50 citations , July 1996 in “Cell”

This review discusses genetic and epigenetic mechanisms that may contribute to aging and presents models suggesting that chromosomal changes could play a key role in the aging process; it reports no new experimental findings.

research A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family

36 citations , October 2000 in “British Journal of Dermatology”

This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.

research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless

29 citations , March 2000 in “Journal of Investigative Dermatology”

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.