A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice

Anne L. Lehman, Yoshimichi Nakatsu, Ada Ching, Roderick T. Bronson, Rebecca J. Oakey, Natalie Keiper-Hrynko, Joshua N. Finger, Donna Durham-Pierre, Daniel B. Horton, J. M. Newton, Mary F. Lyon, Murray H. Brilliant

Research output: Contribution to journalArticle

84 Citations (Scopus)

Abstract

Three radiation-induced alleles of the mouse p locus, p(6H), p(25H), and p(bs), cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related hypopigmentation. These alleles are associated with disruption of the p gene plus an adjacent gene involved in the disorders listed. We have identified this adjacent gene, previously named rjs (runty jerky sterile), by positional cloning. The rjs cDNA is very large, covering 15,264 nucleotides. The predicted rjs-encoded protein (4,836 amino acids) contains several sequence motifs, including three RCC1 repeats, a structural motif in common with cytochrome b5, and a HECT domain in common with E6-AP ubiquitin ligase. On the basis of sequence homology and conserved synteny, the rjs gene is the single mouse homolog of a previously described five- or six-member human gene family. This family is represented by at least two genes, HSC7541 and KIAA0393, from human chromosome 15q11-q13, HSC7541 and KIAA0393 lie close to, or within, a region commonly deleted in most Prader- Willi syndrome patients. Previous work has suggested that the multiple phenotypes in rjs mice might be due to a common neuroendocrine defect. In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies.

Original languageEnglish
Pages (from-to)9436-9441
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume95
Issue number16
DOIs
Publication statusPublished - Aug 4 1998
Externally publishedYes

Fingerprint

Genes
Proteins
Alleles
Cytochromes a
Hypopigmentation
Synteny
Prader-Willi Syndrome
Cytochromes b5
Maternal Behavior
Human Chromosomes
Ligases
Sequence Homology
Ubiquitin
Fertility
Organism Cloning
Nucleotides
Complementary DNA
Radiation
Phenotype
Amino Acids

All Science Journal Classification (ASJC) codes

  • General

Cite this

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. / Lehman, Anne L.; Nakatsu, Yoshimichi; Ching, Ada; Bronson, Roderick T.; Oakey, Rebecca J.; Keiper-Hrynko, Natalie; Finger, Joshua N.; Durham-Pierre, Donna; Horton, Daniel B.; Newton, J. M.; Lyon, Mary F.; Brilliant, Murray H.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 95, No. 16, 04.08.1998, p. 9436-9441.

Research output: Contribution to journalArticle

Lehman, AL, Nakatsu, Y, Ching, A, Bronson, RT, Oakey, RJ, Keiper-Hrynko, N, Finger, JN, Durham-Pierre, D, Horton, DB, Newton, JM, Lyon, MF & Brilliant, MH 1998, 'A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice', Proceedings of the National Academy of Sciences of the United States of America, vol. 95, no. 16, pp. 9436-9441. https://doi.org/10.1073/pnas.95.16.9436
Lehman, Anne L. ; Nakatsu, Yoshimichi ; Ching, Ada ; Bronson, Roderick T. ; Oakey, Rebecca J. ; Keiper-Hrynko, Natalie ; Finger, Joshua N. ; Durham-Pierre, Donna ; Horton, Daniel B. ; Newton, J. M. ; Lyon, Mary F. ; Brilliant, Murray H. / A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. In: Proceedings of the National Academy of Sciences of the United States of America. 1998 ; Vol. 95, No. 16. pp. 9436-9441.
@article{04936c4db1c44983b1da741393ce800c,
title = "A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice",
abstract = "Three radiation-induced alleles of the mouse p locus, p(6H), p(25H), and p(bs), cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related hypopigmentation. These alleles are associated with disruption of the p gene plus an adjacent gene involved in the disorders listed. We have identified this adjacent gene, previously named rjs (runty jerky sterile), by positional cloning. The rjs cDNA is very large, covering 15,264 nucleotides. The predicted rjs-encoded protein (4,836 amino acids) contains several sequence motifs, including three RCC1 repeats, a structural motif in common with cytochrome b5, and a HECT domain in common with E6-AP ubiquitin ligase. On the basis of sequence homology and conserved synteny, the rjs gene is the single mouse homolog of a previously described five- or six-member human gene family. This family is represented by at least two genes, HSC7541 and KIAA0393, from human chromosome 15q11-q13, HSC7541 and KIAA0393 lie close to, or within, a region commonly deleted in most Prader- Willi syndrome patients. Previous work has suggested that the multiple phenotypes in rjs mice might be due to a common neuroendocrine defect. In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies.",
author = "Lehman, {Anne L.} and Yoshimichi Nakatsu and Ada Ching and Bronson, {Roderick T.} and Oakey, {Rebecca J.} and Natalie Keiper-Hrynko and Finger, {Joshua N.} and Donna Durham-Pierre and Horton, {Daniel B.} and Newton, {J. M.} and Lyon, {Mary F.} and Brilliant, {Murray H.}",
year = "1998",
month = "8",
day = "4",
doi = "10.1073/pnas.95.16.9436",
language = "English",
volume = "95",
pages = "9436--9441",
journal = "Proceedings of the National Academy of Sciences of the United States of America",
issn = "0027-8424",
number = "16",

}

TY - JOUR

T1 - A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice

AU - Lehman, Anne L.

AU - Nakatsu, Yoshimichi

AU - Ching, Ada

AU - Bronson, Roderick T.

AU - Oakey, Rebecca J.

AU - Keiper-Hrynko, Natalie

AU - Finger, Joshua N.

AU - Durham-Pierre, Donna

AU - Horton, Daniel B.

AU - Newton, J. M.

AU - Lyon, Mary F.

AU - Brilliant, Murray H.

PY - 1998/8/4

Y1 - 1998/8/4

N2 - Three radiation-induced alleles of the mouse p locus, p(6H), p(25H), and p(bs), cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related hypopigmentation. These alleles are associated with disruption of the p gene plus an adjacent gene involved in the disorders listed. We have identified this adjacent gene, previously named rjs (runty jerky sterile), by positional cloning. The rjs cDNA is very large, covering 15,264 nucleotides. The predicted rjs-encoded protein (4,836 amino acids) contains several sequence motifs, including three RCC1 repeats, a structural motif in common with cytochrome b5, and a HECT domain in common with E6-AP ubiquitin ligase. On the basis of sequence homology and conserved synteny, the rjs gene is the single mouse homolog of a previously described five- or six-member human gene family. This family is represented by at least two genes, HSC7541 and KIAA0393, from human chromosome 15q11-q13, HSC7541 and KIAA0393 lie close to, or within, a region commonly deleted in most Prader- Willi syndrome patients. Previous work has suggested that the multiple phenotypes in rjs mice might be due to a common neuroendocrine defect. In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies.

AB - Three radiation-induced alleles of the mouse p locus, p(6H), p(25H), and p(bs), cause defects in growth, coordination, fertility, and maternal behavior in addition to p gene-related hypopigmentation. These alleles are associated with disruption of the p gene plus an adjacent gene involved in the disorders listed. We have identified this adjacent gene, previously named rjs (runty jerky sterile), by positional cloning. The rjs cDNA is very large, covering 15,264 nucleotides. The predicted rjs-encoded protein (4,836 amino acids) contains several sequence motifs, including three RCC1 repeats, a structural motif in common with cytochrome b5, and a HECT domain in common with E6-AP ubiquitin ligase. On the basis of sequence homology and conserved synteny, the rjs gene is the single mouse homolog of a previously described five- or six-member human gene family. This family is represented by at least two genes, HSC7541 and KIAA0393, from human chromosome 15q11-q13, HSC7541 and KIAA0393 lie close to, or within, a region commonly deleted in most Prader- Willi syndrome patients. Previous work has suggested that the multiple phenotypes in rjs mice might be due to a common neuroendocrine defect. In addition to this proposed mode of action, alternative functions of the rjs gene are evaluated in light of its known protein homologies.

UR - http://www.scopus.com/inward/record.url?scp=13144294984&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=13144294984&partnerID=8YFLogxK

U2 - 10.1073/pnas.95.16.9436

DO - 10.1073/pnas.95.16.9436

M3 - Article

C2 - 9689098

AN - SCOPUS:13144294984

VL - 95

SP - 9436

EP - 9441

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

IS - 16

ER -