The Human Germ Cell-Less (HGCL): A Candidate Gene for Alström Syndrome

Einav Nili, Gady S. Cojocaru, Frida Brok-Simoni, Ninette Amariglio, Amos J. Simon, Gideon Rechavi, Gayle B. Collin, Patsy M. Nishina, Amos J. Simon

Research output: Contribution to journalArticle

Abstract

Alström syndrome (ALMS1, MIM 203800) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, deafness, obesity, hyperlipidemia and non-insulin dependent diabetes mellitus (NIDDM). In some cases, acanthosis nigricans, cardiomyopathy, hepatic dysfunction, progressive chronic nephropathy and male hypogonadism are also observed. Linkage analysis studies mapped Alström syndrome to chromosome 2pl3. Several genes in this region, including TGFA and DCTN1, have been analyzed and excluded as candidate genes for this disease. Here we report the cloning and characterization of HGCL, the human homologue of the germ cell-less gene of Drosophila and mouse, which maps to the chromosomal region identified for Alstrom syndrome. Three highly conserved gel proteins which have been identified contain a BTB/POZ domain, present in a variety of regulatory proteins, many of which have DNA-related functions, such as repression of transcription. Mouse gel has been suggested to repress the transcriptional activity of the E2F-DP complex and to negatively regulate the cell cycle. Based on the chromosomal mapping of HGCL, and its pattern of expression in various human tissues, we propose HGCL to be a candidate gene for Alström syndrome. KEY WORDS germ cell-less, Alström syndrome, chromosome 2pl3-14.

Original languageEnglish (US)
Pages (from-to)29-36
Number of pages8
JournalInternational Journal on Disability and Human Development
Volume2
Issue number1
DOIs
StatePublished - Jan 1 2001

Fingerprint

Germ Cells
Genes
Alstrom Syndrome
Gels
Eunuchism
Acanthosis Nigricans
Chromosomes, Human, Pair 14
Retinitis Pigmentosa
Deafness
Hyperlipidemias
Cardiomyopathies
Type 2 Diabetes Mellitus
Drosophila
Organism Cloning
Cell Cycle
Proteins
Obesity
Chromosomes
Liver
DNA

ASJC Scopus subject areas

  • Rehabilitation
  • Sensory Systems
  • Geriatrics and Gerontology
  • Psychiatry and Mental health
  • Advanced and Specialized Nursing
  • Speech and Hearing

Cite this

The Human Germ Cell-Less (HGCL) : A Candidate Gene for Alström Syndrome. / Nili, Einav; Cojocaru, Gady S.; Brok-Simoni, Frida; Amariglio, Ninette; Simon, Amos J.; Rechavi, Gideon; Collin, Gayle B.; Nishina, Patsy M.; Simon, Amos J.

In: International Journal on Disability and Human Development, Vol. 2, No. 1, 01.01.2001, p. 29-36.

Research output: Contribution to journalArticle

Nili, E, Cojocaru, GS, Brok-Simoni, F, Amariglio, N, Simon, AJ, Rechavi, G, Collin, GB, Nishina, PM & Simon, AJ 2001, 'The Human Germ Cell-Less (HGCL): A Candidate Gene for Alström Syndrome', International Journal on Disability and Human Development, vol. 2, no. 1, pp. 29-36. https://doi.org/10.1515/IJDHD.2001.2.1.29
Nili, Einav ; Cojocaru, Gady S. ; Brok-Simoni, Frida ; Amariglio, Ninette ; Simon, Amos J. ; Rechavi, Gideon ; Collin, Gayle B. ; Nishina, Patsy M. ; Simon, Amos J. / The Human Germ Cell-Less (HGCL) : A Candidate Gene for Alström Syndrome. In: International Journal on Disability and Human Development. 2001 ; Vol. 2, No. 1. pp. 29-36.
@article{fa0b09a15dcc4782b43886791ee217c8,
title = "The Human Germ Cell-Less (HGCL): A Candidate Gene for Alstr{\"o}m Syndrome",
abstract = "Alstr{\"o}m syndrome (ALMS1, MIM 203800) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, deafness, obesity, hyperlipidemia and non-insulin dependent diabetes mellitus (NIDDM). In some cases, acanthosis nigricans, cardiomyopathy, hepatic dysfunction, progressive chronic nephropathy and male hypogonadism are also observed. Linkage analysis studies mapped Alstr{\"o}m syndrome to chromosome 2pl3. Several genes in this region, including TGFA and DCTN1, have been analyzed and excluded as candidate genes for this disease. Here we report the cloning and characterization of HGCL, the human homologue of the germ cell-less gene of Drosophila and mouse, which maps to the chromosomal region identified for Alstrom syndrome. Three highly conserved gel proteins which have been identified contain a BTB/POZ domain, present in a variety of regulatory proteins, many of which have DNA-related functions, such as repression of transcription. Mouse gel has been suggested to repress the transcriptional activity of the E2F-DP complex and to negatively regulate the cell cycle. Based on the chromosomal mapping of HGCL, and its pattern of expression in various human tissues, we propose HGCL to be a candidate gene for Alstr{\"o}m syndrome. KEY WORDS germ cell-less, Alstr{\"o}m syndrome, chromosome 2pl3-14.",
author = "Einav Nili and Cojocaru, {Gady S.} and Frida Brok-Simoni and Ninette Amariglio and Simon, {Amos J.} and Gideon Rechavi and Collin, {Gayle B.} and Nishina, {Patsy M.} and Simon, {Amos J.}",
year = "2001",
month = "1",
day = "1",
doi = "10.1515/IJDHD.2001.2.1.29",
language = "English (US)",
volume = "2",
pages = "29--36",
journal = "International Journal on Disability and Human Development",
issn = "2191-1231",
publisher = "Freund Publishing House Ltd",
number = "1",

}

TY - JOUR

T1 - The Human Germ Cell-Less (HGCL)

T2 - A Candidate Gene for Alström Syndrome

AU - Nili, Einav

AU - Cojocaru, Gady S.

AU - Brok-Simoni, Frida

AU - Amariglio, Ninette

AU - Simon, Amos J.

AU - Rechavi, Gideon

AU - Collin, Gayle B.

AU - Nishina, Patsy M.

AU - Simon, Amos J.

PY - 2001/1/1

Y1 - 2001/1/1

N2 - Alström syndrome (ALMS1, MIM 203800) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, deafness, obesity, hyperlipidemia and non-insulin dependent diabetes mellitus (NIDDM). In some cases, acanthosis nigricans, cardiomyopathy, hepatic dysfunction, progressive chronic nephropathy and male hypogonadism are also observed. Linkage analysis studies mapped Alström syndrome to chromosome 2pl3. Several genes in this region, including TGFA and DCTN1, have been analyzed and excluded as candidate genes for this disease. Here we report the cloning and characterization of HGCL, the human homologue of the germ cell-less gene of Drosophila and mouse, which maps to the chromosomal region identified for Alstrom syndrome. Three highly conserved gel proteins which have been identified contain a BTB/POZ domain, present in a variety of regulatory proteins, many of which have DNA-related functions, such as repression of transcription. Mouse gel has been suggested to repress the transcriptional activity of the E2F-DP complex and to negatively regulate the cell cycle. Based on the chromosomal mapping of HGCL, and its pattern of expression in various human tissues, we propose HGCL to be a candidate gene for Alström syndrome. KEY WORDS germ cell-less, Alström syndrome, chromosome 2pl3-14.

AB - Alström syndrome (ALMS1, MIM 203800) is a rare autosomal recessive disorder characterized by retinitis pigmentosa, deafness, obesity, hyperlipidemia and non-insulin dependent diabetes mellitus (NIDDM). In some cases, acanthosis nigricans, cardiomyopathy, hepatic dysfunction, progressive chronic nephropathy and male hypogonadism are also observed. Linkage analysis studies mapped Alström syndrome to chromosome 2pl3. Several genes in this region, including TGFA and DCTN1, have been analyzed and excluded as candidate genes for this disease. Here we report the cloning and characterization of HGCL, the human homologue of the germ cell-less gene of Drosophila and mouse, which maps to the chromosomal region identified for Alstrom syndrome. Three highly conserved gel proteins which have been identified contain a BTB/POZ domain, present in a variety of regulatory proteins, many of which have DNA-related functions, such as repression of transcription. Mouse gel has been suggested to repress the transcriptional activity of the E2F-DP complex and to negatively regulate the cell cycle. Based on the chromosomal mapping of HGCL, and its pattern of expression in various human tissues, we propose HGCL to be a candidate gene for Alström syndrome. KEY WORDS germ cell-less, Alström syndrome, chromosome 2pl3-14.

UR - http://www.scopus.com/inward/record.url?scp=85025279503&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85025279503&partnerID=8YFLogxK

U2 - 10.1515/IJDHD.2001.2.1.29

DO - 10.1515/IJDHD.2001.2.1.29

M3 - Article

AN - SCOPUS:85025279503

VL - 2

SP - 29

EP - 36

JO - International Journal on Disability and Human Development

JF - International Journal on Disability and Human Development

SN - 2191-1231

IS - 1

ER -