Fine structure mapping and deletion analysis of the murine piebald locus

Metallinos, D L; Tilghman, S M; Oppenheimer, A J; Rinchik, E M; Russell, L B; Dietrich, W

Title: Fine structure mapping and deletion analysis of the murine piebald locus

Full Record
Other Related Research

Abstract

Piebald (s) is a recessive mutation that affects the development of two cell types of neural crest origin: melanocytes, responsible for pigment synthesis in the skin, and enteric ganglia, which innervate the lower bowel. As a result, mice carrying piebald mutations exhibit white spotting in the coat and aganglionic megacolon. Previously the gene had been localized to the distal half of mouse chromosome 14. To determine its precise location relative to molecular markers, an intersubspecific backcross was generated. Two anchor loci of chromosome 14, slaty and hypogonadal, in addition to simple sequence length repeat markers, were used to localize s to a 2-cM interval defined by the markers D14Mit38 and D14Mit42. The molecular markers were also used to characterize nine induced s alleles. Three of these mutations exhibited no deletions or rearrangements of the flanking markers, whereas the other six had two or more of these markers deleted. The extent of the deletions was found to be consistent with the severity of the homozygous phenotype. The location of deletion breakpoints in the induced alleles, coupled with the recombination breakpoints in the backcross progeny, provide useful molecular landmarks to define the location of the piebald gene.

Authors:

Metallinos, D L; Tilghman, S M ^[1]; Oppenheimer, A J ^[2]; Rinchik, E M; Russell, L B ^[3]; Dietrich, W ^[4]

Princeton Univ., NJ (United States)
Harvard Medical School, Boston, MA (United States)
Oak Ridge National Laboratory, TN (United States)
Whitehead Institute for Biomedical Research, Cambridge, MA (United States)

Publication Date:: Sat Jan 01 00:00:00 EST 1994

OSTI Identifier:: 5135781

DOE Contract Number:: AC05-84OR21400

Resource Type:: Journal Article

Journal Name:: Genetics; (United States)

Additional Journal Information:: Journal Volume: 136:1; Journal ID: ISSN 0016-6731

Country of Publication:: United States

Language:: English

Subject:: 59 BASIC BIOLOGICAL SCIENCES; GENE MUTATIONS; GENETIC MAPPING; MICE; ANIMAL CELLS; BIOLOGICAL MARKERS; CHROMOSOMES; GANGLIONS; LARGE INTESTINE; MELANIN; ANIMALS; BODY; DIGESTIVE SYSTEM; GASTROINTESTINAL TRACT; HYDROXY COMPOUNDS; INTESTINES; MAMMALS; MAPPING; MUTATIONS; NERVOUS SYSTEM; ORGANIC COMPOUNDS; ORGANIC NITROGEN COMPOUNDS; ORGANS; PIGMENTS; RODENTS; VERTEBRATES; 550400* - Genetics

Citation Formats


                    Metallinos, D L, Tilghman, S M, Oppenheimer, A J, Rinchik, E M, Russell, L B, and Dietrich, W. Fine structure mapping and deletion analysis of the murine piebald locus.  United States: N. p., 1994. 
        Web.

Copy to clipboard


                    Metallinos, D L, Tilghman, S M, Oppenheimer, A J, Rinchik, E M, Russell, L B, & Dietrich, W. Fine structure mapping and deletion analysis of the murine piebald locus.  United States.

Copy to clipboard


                    Metallinos, D L, Tilghman, S M, Oppenheimer, A J, Rinchik, E M, Russell, L B, and Dietrich, W. 1994.  
        "Fine structure mapping and deletion analysis of the murine piebald locus".  United States.

Copy to clipboard


                    
@article{osti_5135781,

  title        = {Fine structure mapping and deletion analysis of the murine piebald locus},

  author       = {Metallinos, D L and Tilghman, S M and Oppenheimer, A J and Rinchik, E M and Russell, L B and Dietrich, W},

  abstractNote = {Piebald (s) is a recessive mutation that affects the development of two cell types of neural crest origin: melanocytes, responsible for pigment synthesis in the skin, and enteric ganglia, which innervate the lower bowel. As a result, mice carrying piebald mutations exhibit white spotting in the coat and aganglionic megacolon. Previously the gene had been localized to the distal half of mouse chromosome 14. To determine its precise location relative to molecular markers, an intersubspecific backcross was generated. Two anchor loci of chromosome 14, slaty and hypogonadal, in addition to simple sequence length repeat markers, were used to localize s to a 2-cM interval defined by the markers D14Mit38 and D14Mit42. The molecular markers were also used to characterize nine induced s alleles. Three of these mutations exhibited no deletions or rearrangements of the flanking markers, whereas the other six had two or more of these markers deleted. The extent of the deletions was found to be consistent with the severity of the homozygous phenotype. The location of deletion breakpoints in the induced alleles, coupled with the recombination breakpoints in the backcross progeny, provide useful molecular landmarks to define the location of the piebald gene.},

  doi          = {},

  url          = {https://www.osti.gov/biblio/5135781},
  journal      = {Genetics; (United States)},

  issn         = {0016-6731},

  number       = ,

  volume       = 136:1,

  place        = {United States},

  year         = {Sat Jan 01 00:00:00 EST 1994},

  month        = {Sat Jan 01 00:00:00 EST 1994}

}

Copy to clipboard

Journal Article:

Other availability

Find in Google Scholar

Search WorldCat to find libraries that may hold this journal

Save / Share:

Export Metadata

Save to My Library

Similar records in OSTI.GOV collections:

Deletion of the c-kit protooncogene in the human developmental defect piebald trait

Journal Article Fleischman, R; Stastny, V; Zneimer, S; ... - Proceedings of the National Academy of Sciences of the United States of America; (United States)

The protooncogene c-kit is critical for development of hematopoietic stem cells, germ cells, and melanoblasts in the mouse. Homozygous mutations of this gene in the mouse cause anemia, infertility, and albinism, whereas heterozygous mutant mice usually exhibit only a white forehead blaze and depigmentation of the ventral body, tail, and feet. The heterozygous mouse phenotype is very similar to human piebald trait, which is characterized by a congenital white hair forelock and ventral and extremity depigmentation. To investigate the possibility that alterations in the human c-kit gene may be a cause of piebald trait, DNA from seven unrelated affected individualsmore »« less
https://doi.org/10.1073/pnas.88.23.10885
Molecular genetic analysis of distal mouse chromosome 6 defines gene order and positions of the deafwaddler and opisthotonos mutations

Journal Article Street, V; Robinson, L; Erford, S; ... - Genomics

Two neurological mutants deafwaddler (dfw) and opisthotonos (opt) and a cluster of three Shaker-like potassium (K) channel genes Kcna1, Kcna5, and Kcna6 were all independently mapped to distal mouse chromosome six (Chr 6). In this study, genetic and molecular techniques were employed to assess directly the linkage of the two mutants and to investigate the likelihood that a mutation in one of the three K channel genes may underlie dfw and/or opt. Genetic crosses testing for allelism showed that the dfw and opt mutations complement each other. Additional crosses demonstrated that the mutants are separated by a recombination distance ofmore »« less
https://doi.org/10.1006/geno.1995.1222
Gastric emptying and small intestinal transit in the piebald mouse model for Hirschsprung's disease

Journal Article Cooke, H; Pitman, K; Starr, G; ... - Gastroenterology; (United States)

Gastric emptying and small intestinal transit were investigated in the piebald mouse model for Hirschsprung's disease. These mice exhibited aganglionosis of the terminal segment of the large intestine. This condition was accompanied by fecal stasis and megacolon. Gastric emptying of saline or milk meals was slower in the mice with aganglionic or induced megacolon than in the normal mice, but the rate of emptying was faster than after administration of morphine (10 mg/kg). In the small intestine, the distribution of the radiolabeled marker and the advancing edge of the marker profile were abnormal in the mice with megacolon. There weremore »« less
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

Journal Article Juyal, R; Figuera, L; Hauge, X - American Journal of Human Genetics

Smith-Magenis syndrome (SMS) is a clinically recognizable, multiple congenital anomalies/mental retardation syndrome caused by an interstitial deletion involving band p11.2 of chromosome 17. Toward the molecular definition of the interval defining this microdeletion syndrome, 62 unrelated SMS patients in conjunction with 70 available unaffected parents were molecularly analyzed with respect to the presence or absence of 14 loci in the proximal region of the short arm of chromosome 17. A multifaceted approach was used to determine deletion status at the various loci that combined (1) FISH analysis, (2) PCR and Southern analysis of somatic cell hybrids retaining the deleted chromosomemore »« less
Molecular analysis of two mouse dilute locus deletion mutations: Spontaneous dilute lethal20J and radiation-induced dilute prenatal lethal Aa2 alleles

Journal Article Strobel, M; Seperack, P; Copeland, N; ... - Molecular and Cellular Biology; (USA)

The dilute (d) coat color locus of mouse chromosome 9 has been identified by more than 200 spontaneous and mutagen-induced recessive mutations. With the advent of molecular probes for this locus, the molecular lesion associated with different dilute alleles can be recognized and precisely defined. In this study, two dilute mutations, dilute-lethal20J (dl20J) and dilute prenatal lethal Aa2, have been examined. Using a dilute locus genomic probe in Southern blot analysis, we detected unique restriction fragments in dl20J and Aa2 DNA. Subsequent analysis of these fragments showed that they represented deletion breakpoint fusion fragments. DNA sequence analysis of each mutation-associatedmore »« less
https://doi.org/10.1128/MCB.10.2.501

Similar Records