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1.
Gen Comp Endocrinol ; 347: 114440, 2024 02 01.
Article in English | MEDLINE | ID: mdl-38159870

ABSTRACT

Thyroid hormones (THs) are essential signalling molecules for the postembryonic development of all vertebrates. THs are necessary for the metamorphosis from tadpole to froglet and exogenous TH administration precociously induces metamorphosis. In American bullfrog (Rana [Lithobates] catesbeiana) tadpoles, the TH-induced metamorphosis observed at a warm temperature (24 °C) is arrested at a cold temperature (4 °C) even in the presence of exogenous THs. However, when TH-exposed tadpoles are shifted from cold to warm temperatures (4 â†’ 24 °C), they undergo TH-dependent metamorphosis at an accelerated rate even when the initial TH signal is no longer present. Thus, they possess a "molecular memory" of TH exposure that establishes the TH-induced response program at the cold temperature and prompts accelerated metamorphosis after a shift to a warmer temperature. The components of the molecular memory that allow the uncoupling of initiation from the execution of the metamorphic program are not understood. To investigate this, we used cultured tadpole back skin (C-Skin) in a repeated measures experiment under 24 °C only, 4 °C only, and 4 â†’ 24 °C temperature shifted regimes and reverse transcription quantitative polymerase chain reaction (RT-qPCR) and RNA-sequencing (RNA-seq) analyses. RNA-seq identified 570, 44, and 890 transcripts, respectively, that were significantly changed by TH treatment. These included transcripts encoding transcription factors and proteins involved in mRNA structure and stability. Notably, transcripts associated with molecular memory do not overlap with those identified previously in cultured tail fin (C-fin) except for TH-induced basic leucine zipper-containing protein (thibz) suggesting that thibz may have a central role in molecular memory that works with tissue-specific factors to establish TH-induced gene expression programs.


Subject(s)
Ranidae , Thyroid Hormones , Animals , Temperature , Larva/metabolism , Thyroid Hormones/metabolism , Ranidae/metabolism , Rana catesbeiana/metabolism , Metamorphosis, Biological/genetics , Triiodothyronine/metabolism
2.
Sci Adv ; 7(21)2021 May.
Article in English | MEDLINE | ID: mdl-34138746

ABSTRACT

Free radicals play a vital role in all kinds of biological processes including immune responses. However, free radicals have short lifetimes and are highly reactive, making them difficult to measure using current methods. Here, we demonstrate that relaxometry measurement, or T1, inherited from the field of diamond magnetometry can be used to detect free radicals in living cells with subcellular resolution. This quantum sensing technique is based on defects in diamond, which convert a magnetic signal into an optical signal, allowing nanoscale magnetic resonance measurements. We functionalized fluorescent nanodiamonds (FNDs) to target single mitochondria within macrophage cells to detect the metabolic activity. In addition, we performed measurements on single isolated mitochondria. We were able to detect free radicals generated by individual mitochondria in either living cells or isolated mitochondria after stimulation or inhibition.

3.
Genomics ; 78(3): 197-205, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11735226

ABSTRACT

The mouse doublefoot (Dbf) mutant exhibits preaxial polydactyly in association with craniofacial defects. This mutation has previously been mapped to mouse chromosome 1. We have used a positional cloning strategy, coupled with a comparative sequencing approach using available human draft sequence, to identify putative candidates for the Dbf gene in the mouse and in homologous human region. We have constructed a high-resolution genetic map of the region, localizing the mutation to a 0.4-cM (+/-0.0061) interval on mouse chromosome 1. Furthermore, we have constructed contiguous BAC/PAC clone maps across the mouse and human Dbf region. Using existing markers and additional sequence tagged sites, which we have generated, we have anchored the physical map to the genetic map. Through the comparative sequencing of these clones we have identified 35 genes within this interval, indicating that the region is gene-rich. From this we have identified several genes that are known to be differentially expressed in the developing mid-gestation mouse embryo, some in the developing embryonic limb buds. These genes include those encoding known developmental signaling molecules such as WNT proteins and IHH, and we provide evidence that these genes are candidates for the Dbf mutation.


Subject(s)
Chromosomes, Human, Pair 2 , Genes, Dominant , Animals , Humans , Karyotyping , Mice , Mice, Inbred C3H , Physical Chromosome Mapping
4.
Mamm Genome ; 12(9): 687-94, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11641716

ABSTRACT

The Del(13)Svea36H deletion was recovered from a radiation mutagenesis experiment and represents a valuable resource for investigating gene content and function at this region of mouse Chromosome (Chr) 13 and human Chr 6p21.3-23 and 6p25. In this paper we examine the physical extent of chromosome loss and construct an integrated genetic and radiation hybrid map of the deleted segment. We show that embryos which are homozygous for the deletion die at or before implantation and that heterozygotes are subviable, with a substantial proportion of carriers dying after mid-gestation but before weaning. The majority of viable carriers exhibit a variety of phenotypes including decreased size, eyes open at birth, corneal opacity, tail kinks, and craniofacial abnormalities. Both the heterozygous viability and the penetrance of the visible phenotypes vary with genetic background.


Subject(s)
Chromosome Deletion , Chromosomes , Animals , Cricetinae , Cytogenetic Analysis , DNA Primers/chemistry , Genetic Markers , Genotype , Homozygote , Mice , Mice, Inbred C3H , Mice, Inbred C57BL , Mice, Inbred Strains , Mice, Transgenic , Phenotype , Physical Chromosome Mapping/methods , Polymerase Chain Reaction
5.
Cytogenet Cell Genet ; 89(1-2): 29-37, 2000.
Article in English | MEDLINE | ID: mdl-10894932

ABSTRACT

The existing XYY meiotic data for mice present a very heterogeneous picture with respect to the relative frequencies of different sex chromosome associations, both at pachytene and diakinesis/metaphase I. Furthermore, where both pachytene and diakinesis/MI data are available for the same males, the frequencies of the different configurations at the two stages are very different. In the present paper we utilise "XYY" and "XY/XYY" mosaic mice with cytologically distinguishable Y chromosomes to investigate the factors responsible for this heterogeneity between different males and between the two meiotic stages. It is concluded (1) that the initial pattern of synapsis is driven by the relatedness of the three pseudoautosomal regions (PARs); (2) that the order and extent of PAR synapsis within radial trivalents are also affected by PAR relatedness and that this leads to chiasmata being preferentially formed between closely related PARs; (3) that trivalents with a single chiasma resolve into a bivalent + univalent by the diakinesis stage; (4) that although many spermatocytes with asynapsed sex chromosomes are eliminated between pachytene and diakinesis, those that survive this phase of elimination progress to the first meiotic metaphase (MI) and accumulate in large numbers, leading to an over-representation of those with univalents as compared to radial trivalents; and (5) that the arrested MI cells are eventually eliminated, so that very few "XYY" cells contribute products to MII.


Subject(s)
Meiosis/genetics , Trisomy/genetics , X Chromosome/genetics , Y Chromosome/genetics , Animals , Chromosome Deletion , Crossing Over, Genetic , Male , Mice , Microscopy, Electron , Mosaicism/genetics , Ploidies , Sequence Homology, Nucleic Acid , Spermatocytes/cytology , Spermatocytes/metabolism
6.
Genetics ; 155(2): 793-801, 2000 Jun.
Article in English | MEDLINE | ID: mdl-10835400

ABSTRACT

Previously a deletion in mouse chromosome 17, T(22H), was shown to behave like a t allele of the t complex distorter gene Tcd1, and this was attributed to deletion of this locus. Seven further deletions are studied here, with the aim of narrowing the critical region in which Tcd1 must lie. One deletion, T(30H), together with three others, T(31H), T(33H), and T(36H), which extended more proximally, caused male sterility when heterozygous with a complete t haplotype and also enhanced transmission ratio of the partial t haplotype t(6), and this was attributed to deletion of the Tcd1 locus. The deletions T(29H), T(32H), and T(34H) that extended less proximally than T(30H) permitted male fertility when opposite a complete t haplotype. These results enabled narrowing of the critical interval for Tcd1 to between the markers D17Mit164 and D17Leh48. In addition, T(29H) and T(32H) enhanced the transmission ratio of t(6), but significantly less so than T(30H). T(34H) had no effect on transmission ratio. These results could be explained by a new distorter located between the breakpoints of T(29H) and T(34H) (between T and D17Leh66E). It is suggested that the original distorter Tcd1 in fact consists of two loci: Tcd1a, lying between D17Mit164 and D17Leh48, and Tcd1b, lying between T and D17Leh66E.


Subject(s)
Chromosome Deletion , Infertility, Male/genetics , Animals , Female , Haplotypes , Heterozygote , Male , Mice
7.
Cytogenet Cell Genet ; 91(1-4): 57-61, 2000.
Article in English | MEDLINE | ID: mdl-11173831

ABSTRACT

It has previously been reported that 19% of the daughters of males carrying the X-linked mutation patchy fur (Paf) are XO with a maternally derived X chromosome. We now report that hemizygous Paf males that also carry the variant Y chromosome Y*, show a much increased XO production ( approximately 40% of daughters). We hypothesize that the Paf mutation is associated with an inversion spanning the pseudoautosomal region (PAR) boundary, and that this leads to preferential crossing over between the resulting inverted region of PAR and an equivalent inverted PAR region within the compound Y* PAR. This would lead to the production of dicentric X and acentric Y products and consequent sex chromosome loss. This interpretation is supported by analysis of the sex chromosome complements at the second meiotic metaphase, which revealed a high incidence of dicentrics. Another curious feature of the Paf mutation is that mice that are homozygous Paf have more hair than mice that are hemizygous Paf. This can be explained if the Paf mutation is a hypomorphic mutation that escapes X inactivation because, unlike the wild type allele, it is now located within the PAR.


Subject(s)
Chromosome Inversion , Hair/abnormalities , Monosomy/genetics , Mutation/genetics , Sex Chromosome Aberrations/genetics , X Chromosome/genetics , Y Chromosome/genetics , Animals , Chromosome Banding , Chromosome Breakage/genetics , Crosses, Genetic , Crossing Over, Genetic/genetics , Female , Genetic Linkage/genetics , Hair/metabolism , Karyotyping , Male , Meiosis/genetics , Mice , Mice, Mutant Strains , Phenotype
8.
Hum Mol Genet ; 9(1): 79-85, 2000 Jan 01.
Article in English | MEDLINE | ID: mdl-10587581

ABSTRACT

We have demonstrated that the phenotype of the mouse mutant sex-linked fidget ( slf ) is caused by developmental malformations of the inner ear that result in hearing loss and vestibular dysfunction. Recently, pilot mapping experiments suggested that the mouse Brn4 / Pou3f4 gene co-segregated with the slf locus on the mouse X chromosome. These mapping data, in conjunction with the observation that the vertical head-shaking phenotype of slf mutants is identical to that observed in mice with a targeted deletion of the Brn4 gene, suggested that slf is a mutant allele of the Brn4 gene. In this paper, we have identified the nature of the slf mutation, and demonstrated that it is an X chromosomal inversion with one breakpoint close to Brn4. This inversion selectively eliminates the expression of the Brn4 gene in the developing inner ear, but not the neural tube. Finally, these results demonstrate that the slf mutation is a good mouse model for the most prevalent form of X-linked congenital deafness in man, which is associated with mutations in the human Brn4 ortholog, POU3F4.


Subject(s)
DNA-Binding Proteins , Ear, Inner/embryology , Ear, Inner/physiology , Mutation , Nerve Tissue Proteins , Transcription Factors/genetics , Animals , Chromosome Mapping , Female , Gene Expression Regulation, Developmental , Gene Rearrangement , Immunohistochemistry , Male , Mice , Mice, Inbred Strains , Mice, Knockout , Mice, Mutant Strains , POU Domain Factors , Reflex, Acoustic/physiology , Reflex, Startle/genetics , Regulatory Sequences, Nucleic Acid , Sex Factors , Transcription Factors/metabolism , X Chromosome
10.
Nat Genet ; 18(3): 257-61, 1998 Mar.
Article in English | MEDLINE | ID: mdl-9500548

ABSTRACT

Evidence is accumulating that meiosis is subject to 'checkpoints' that monitor the quality of this complex process. In yeast, unresolved double strand breaks (DSBs) in DNA are thought to trigger a 'recombination checkpoint' that leads to pachytene arrest. In higher eukaryotes, there is evidence for a checkpoint that monitors chromosome synapsis and in mammals the most compelling evidence relates to the sex chromosomes. In normal male mice, there is synapsis between the X and Y pseudoautosomal regions; in XSxr(a)O mice, with a single asynaptic sex chromosome, there is arrest at the first meiotic metaphase, the arrested cells being eliminated by apoptosis (our unpublished data). Satisfying the requirement for pseudoautosomal synapsis by providing a pairing partner for the XSxr(a) chromosome avoids this arrest. We have considered that this 'synapsis checkpoint' may be a modification of the yeast 'recombination checkpoint' with unresolved DSBs (a corollary of asynapsis) providing the trigger for apoptosis. DSBs induced by irradiation are known to trigger apoptosis in a number of cell types via a p53-dependent pathway, and we now show that irradiation-induced spermatogonial apoptosis is also p53-dependent. In contrast, the apoptotic elimination of spermatocytes with synaptic errors proved to be p53-independent.


Subject(s)
Apoptosis/genetics , Genes, p53 , Meiosis , Spermatocytes/physiology , Animals , Apoptosis/radiation effects , Chromosome Aberrations , DNA Damage/genetics , DNA Damage/radiation effects , Female , Male , Mice , Mice, Inbred Strains , Models, Biological , Synaptonemal Complex/genetics , Testis/pathology , Testis/radiation effects , Whole-Body Irradiation , X Chromosome , Y Chromosome
11.
Cell Growth Differ ; 7(9): 1271-82, 1996 Sep.
Article in English | MEDLINE | ID: mdl-8877107

ABSTRACT

The spontaneous mouse waved 1 (wa1) mutation is allelic with the transforming growth factor alpha (TGF-alpha) gene and produces phenotypes similar to those of TGF-alpha knockout mice. Here, we show that TGF-alpha mRNA and protein levels are measurable in wa1 tissues but reduced 5- to 30-fold relative to wild type. Because the wa1-coding sequence is identical to that of the normal mRNA, wa1 is not a null mutation. Nuclear run-on analyses revealed decreased transcription of the TGF-alpha gene in wa1 tissues, but the sequence of a 3.2-kb 5' flanking fragment containing the promoter was unaltered. Moreover, pulsed field gel electrophoresis analysis did not reveal alterations within 750 kb upstream or 350 kb downstream of the gene, and chromosome 6 was karyotypically normal. Hence, we speculate that the wa1 mutation may be subtle and/or reside at a greater distance from the TGF-alpha gene. TGF-alpha deficiency elicits a spectrum of variably penetrant eye anomalies in wa1 and knockout mice that are associated with open eyes at birth. We found that late-gestation wa1 and TGF-alpha-null embryos display a significant delay in eyelid closure, although the eyes of most embryos fuse prior to birth. In situ hybridization localized TGF-alpha expression to the advancing margins of the eyelid epithelium and epidermal growth factor receptor expression throughout the eyelid and corneal epithelia. These results suggest that eye problems observed in TGF-alpha-deficient adult mice arise from premature exposure and trauma to open eyes during or following parturition.


Subject(s)
Eyelids/embryology , Gene Expression Regulation, Developmental/physiology , Mutation/physiology , Transforming Growth Factor alpha/genetics , Amino Acid Sequence , Animals , Base Sequence , Brain Chemistry , Chromosome Aberrations , Cornea/metabolism , DNA, Complementary/genetics , Epithelium/chemistry , Epithelium/pathology , ErbB Receptors/genetics , Mice , Mice, Knockout , Mice, Mutant Strains , Molecular Sequence Data , Organ Specificity , Promoter Regions, Genetic/genetics , RNA, Messenger/analysis , Sequence Analysis, DNA , Transcription, Genetic
12.
Philos Trans R Soc Lond B Biol Sci ; 350(1333): 253-60 discussion 260-1, 1995 Nov 29.
Article in English | MEDLINE | ID: mdl-8570689

ABSTRACT

There is now a substantial body of data showing that in eutherian mammals (mouse, rat, cow and man) XY conceptuses are developmentally more advanced (and consequently larger) than XX conceptuses of equivalent gestational age. This developmental difference is already discernible in the preimplantation period and it has been suggested that the more advanced development of XY embryos may be a consequence of the preimplantation expression of Y chromosomal genes such as Sry or Zfy. In the present paper sex-chromosomally variant mice were used to analyse the genetic basis of XX-XY differences as manifest at 10.5 days post coitum. The results show that the XX-XY difference is due to a combination of a Y chromosome effect and an effect of the difference in X chromosome constitution (2X v 1X). The Y effect is not dependent on the presence of Sry. In the light of this and other studies, it is concluded that the Y chromosome of most mouse strains carries a factor which accelerates preimplantation development and that the resulting developmental advantage is carried over into the postimplantation period. The retarding effect of two X chromosomes is then superimposed on this Y effect subsequent to the blastocyst stage but prior to 9.5 days post coitum.


Subject(s)
Mice/embryology , Sex Determination Analysis , X Chromosome/physiology , Y Chromosome/physiology , Animals , Body Weight , Embryonic and Fetal Development/genetics , Female , Gonads/embryology , Longitudinal Studies , Male
13.
Genes Dev ; 9(4): 455-70, 1995 Feb 15.
Article in English | MEDLINE | ID: mdl-7533739

ABSTRACT

The Steel (Sl) locus is essential for the development of germ cells, hematopoietic cells, and melanocytes and encodes a growth factor (Mgf) that is the ligand for c-kit, a receptor tyrosine kinase encoded by the W locus. We have identified the molecular and germ cell defects in two mutant Sl alleles, Steel-panda (Slpan) and Steel-contrasted (Slcon), that cause sterility only in females. Unexpectedly, both mutant alleles are shown to contain DNA rearrangements, located > 100 kb 5' of Mgf-coding sequences, that lead to tissue-specific effects on Mgf mRNA expression. In Slpan embryos, decreased Mgf mRNA expression in the gonads causes a reduced number of primordial germ cells in both sexes. However, Mgf expression and spermatogenesis in the postnatal mutant tests is normal, and spermatogonial proliferation compensates for deficiencies in germ cell numbers. In Slpan and Slcon homozygous females, decreased Mgf mRNA expression causes sterility by affecting the initiation and maintenance of ovarian follicle development. Thus, regulated expression of Mgf is required for multiple stages of embryonic and postnatal germ cell development. Surprisingly, other areas of the Slcon female reproductive tract displayed ectopic expression of Mgf mRNA. We propose that the Slpan and Slcon rearrangements alter Mgf mRNA abundance through position effects on expression that act at a distance from the Sl gene.


Subject(s)
Chromosome Inversion , Hematopoietic Cell Growth Factors/genetics , Infertility, Female/genetics , Ovary/embryology , Ovary/growth & development , Animals , Chromosome Mapping , Crosses, Genetic , Female , Gene Expression Regulation , Gene Rearrangement/genetics , Genetic Complementation Test , Genitalia, Female/metabolism , Histocytochemistry , In Situ Hybridization , Male , Mice , Mice, Inbred C3H , Mice, Inbred C57BL , Mutation , RNA, Messenger/analysis , Regulatory Sequences, Nucleic Acid/genetics , Stem Cell Factor , Tissue Distribution
14.
Genet Res ; 63(3): 169-74, 1994 Jun.
Article in English | MEDLINE | ID: mdl-8082833

ABSTRACT

The known limits of the distal imprinting region of mouse Chromosome (Chr) 2 are defined by the breakpoints of the translocations T(2;8)2Wa, (T2Wa), and T(2;16)28H, (T28H), in distal H3, and proximal H4 respectively. We have shown that T2Wa and T(2;4)1Go, (T1Go), which has a breakpoint in central H3 map close to a, non-agouti. Ada, adenosine deaminase, lies very near the proximal boundary and Ra, ragged, maps very close to the distal boundary, and is less than 0.2 cM from wasted, wst. From the current data Ada can be taken as the proximal, and Ra as the distal gene marker of the imprinting region on the linkage map. From consensus maps twenty three other markers, including fourteen genes, lie between Ada and Ra, some of which may be useful in investigations of imprinting. Of the markers included in the study reported here, four, Ada, ls, lethal spotting, Ra and wst lie or probably lie within the region but none display any evidence of imprinting. We suggest that recombination frequency is elevated in distal Chr 2, because in none of the crosses could the most closely linked marker be ordered in relation to the translocation breakpoint due to the high frequency of double crossovers.


Subject(s)
Chromosome Mapping , Chromosomes , Gene Expression , Genes/genetics , Animals , Crossing Over, Genetic , Female , Genetic Linkage , Genetic Markers , Male , Mice , Recombination, Genetic , Translocation, Genetic
15.
Nat Genet ; 3(1): 56-61, 1993 Jan.
Article in English | MEDLINE | ID: mdl-8490655

ABSTRACT

Large deletions and other gross forms of chromosome imbalance are known in man but have rarely been found in the mouse. By screening progeny of spermatogonially irradiated male mice for a combination of runting and other phenotypic effects, we have identified animals that have large deletions comprising from 2.5-30 percent of the length of individual chromosomes, or other major chromosome changes, which are compatible with viability and fertility. Certain chromosome regions appear particularly susceptible to the generation of viable deletions and this has implications for radiation mutagenesis studies. Correlations with human deletions are also indicated.


Subject(s)
Chromosome Aberrations , Chromosome Deletion , Chromosome Disorders , Fertility/genetics , Fetal Viability/genetics , Animals , Chromosome Aberrations/genetics , Female , Karyotyping , Male , Mice , Mice, Inbred C3H , Phenotype
16.
Cytogenet Cell Genet ; 63(1): 66-72, 1993.
Article in English | MEDLINE | ID: mdl-8449042

ABSTRACT

A complex murine chromosomal rearrangement, T(In1;5)44H, was recovered after 5 Gy + 5 Gy (given 24 h apart) spermatogonial X-irradiation. T44H is a paracentric inversion of most of Chromosome (Chr) 1 (1A1-1H6), followed by splitting of the inverted segment through a reciprocal translocation with Chr 5, the latter breakpoints being in 1C2 and 5F. Linkage tests have shown that the probable order on Chr 1 is fz-ln-T44H with 2.4 +/- 2.4 crossover units between ln and T44H. On Chr 5 the probable order is W-T44H-go-bf with 7.1 +/- 4.9 crossover units between T44H and go. All heterozygotes show a marked dilution of coat colour. Heterozygotes of both sexes are fertile, producing small litters with a marked shortage of T44H carriers. The number of live embryos produced from female carriers is significantly lower than from males. Despite the complex nature of the rearrangement, complete chromosome pairing and chiasma formation occur regularly at meiosis. Depending on the strands involved, this leads to the production of either one or two dicentric chromatids per spermatocyte, and their disjunctional fate can be followed into metaphase II. Analysis of chromatid classes at this stage suggests reasons for both the high embryonic mortality and the shortage of liveborn T44H carriers.


Subject(s)
Chromosome Aberrations/genetics , Chromosome Disorders , Mice/genetics , Spermatozoa/radiation effects , Animals , Chromosome Inversion , Female , Genetic Linkage , Heterozygote , Infertility, Female/etiology , Karyotyping , Litter Size , Male , Meiosis , Phenotype , Translocation, Genetic
17.
Nucleic Acids Res ; 21(1): 27-36, 1993 Jan 11.
Article in English | MEDLINE | ID: mdl-8441617

ABSTRACT

Cloned human telomeric DNA can integrate into mammalian chromosomes and seed the formation of new telomeres. This process occurs efficiently in three established human cell lines and in a mouse embryonic stem cell line. The newly seeded telomeres appear to be healed by telomerase. The seeding of new telomeres by cloned telomeric DNA is either undetectable or very inefficient in non-tumourigenic mouse or human somatic cell lines. The cytogenetic consequences of the seeding of new telomeres include large chromosome truncations but most of the telomere seeding events occur close to the pre-existing ends of natural chromosomes.


Subject(s)
Chromosomes, Human/metabolism , Chromosomes/metabolism , Telomere , Animals , Base Sequence , Cell Line , Chromosomes/ultrastructure , Chromosomes, Human/ultrastructure , Cloning, Molecular , DNA , HeLa Cells , Humans , In Situ Hybridization , Karyotyping , Mice , Molecular Sequence Data
18.
Nat Genet ; 2(4): 270-4, 1992 Dec.
Article in English | MEDLINE | ID: mdl-1303278

ABSTRACT

The best examples of imprinting in humans are provided by the Angelman and Prader-Willi syndromes (AS and PWS) which are associated with maternal and paternal 15q11-13 deletions, respectively, and also with paternal and maternal disomy 15. The region of the deletions has homology with a central part of mouse chromosome 7, incompletely tested for imprinting effects. Here, we report that maternal duplication for this region causes a murine imprinting effect which may correspond to PWS. Paternal duplication was not associated with any detectable effect that might correspond with AS. Gene expression studies established that Snrpn is not expressed in mice with the maternal duplication and suggest that the closely-linked Gabrb-3 locus is not subject to imprinting. Finally, an additional new imprinting effect is described.


Subject(s)
Autoantigens/genetics , Models, Genetic , Prader-Willi Syndrome/genetics , Ribonucleoproteins, Small Nuclear/genetics , Animals , Chromosome Mapping , Female , Gene Expression , Humans , Male , Mice , Multigene Family , Translocation, Genetic , snRNP Core Proteins
19.
Biochem Genet ; 29(11-12): 537-44, 1991 Dec.
Article in English | MEDLINE | ID: mdl-1820019

ABSTRACT

The adenosine deaminase locus (Ada) in the mouse has been localized by in situ hybridization to band 2H3. Linkage analysis of backcross data has shown that Ada is 13.8 +/- 2.7 cM from the coat texture mutant, ragged, Ra. From the results of earlier work (Abbott, C. M., et al., Proc. Natl. Acad. Sci. USA 83:693, 1986), it had been suggested that wst was a low-activity allele of Ada, but this cannot be so because Ada and wst have been found to be nonallelic.


Subject(s)
Adenosine Deaminase/genetics , Mice/genetics , Alleles , Animals , Chromosome Mapping , Crosses, Genetic , Genetic Linkage , Mice, Inbred C3H/genetics , Mice, Inbred C57BL/genetics , Mice, Mutant Strains/genetics , Nucleic Acid Hybridization
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