Cynthia Morton - Academia.edu (original) (raw)

Papers by Cynthia Morton

American journal of human genetics, Jan 5, 2015

Good afternoon, and welcome to San Diego and the 64 th meeting of The American Society of Human G... more Good afternoon, and welcome to San Diego and the 64 th meeting of The American Society of Human Genetics (ASHG). It's my privilege to stand before you today as the president of this society-truly an honor and a dream-a dream that I hope some of you here in the audience might dare to dream, because it is truly a dream worth dreaming. Beginning with the first meeting I attended in 1979 in Minneapolis, being a member of this society has been one of the most treasured aspects of my career as a human geneticist. I am very grateful to Walter Nance, chair of the Department of Human Genetics at the Medical College of Virginia during my tenure there as a graduate student, for making this meeting an integral part of our graduatestudent trainee development as human geneticists. With the exception of the international meeting held in Washington in 1991, during which time I was in labor and delivery at Brigham and Women's Hospital in Boston, it has been my special pleasure to be present at all of the meetings since 1979. I have countless wonderful memories of the meetings over those years-of the science and of the friendships-and I can assure you that this meeting will be

American journal of human genetics, 1990

We report that a gene responsible for familial hypertrophic cardiomyopathy (HC) is closely linked... more We report that a gene responsible for familial hypertrophic cardiomyopathy (HC) is closely linked to the cardiac alpha and beta myosin heavy chain (MHC) genes on chromosome 14q11. We have recently shown that probe CRI-L436, derived from the anonymous DNA locus D14S26, detects a polymorphic restriction fragment that segregates with familial HC in affected members of a large Canadian family. Using chromosomal in situ hybridization, we have mapped CRI-L436 to chromosome 14 at q11-q12. Because the cardiac MHC genes also map to this chromosomal band, we have determined the genetic distances between the cardiac beta MHC gene, D14S26, and the familial HC locus. Data presented here show that these three loci are linked within 5 centimorgans on chromosome 14 at q11-q12. The possibility that defects in either the cardiac alpha or beta MHC genes are responsible for familial HC is discussed.

Human Molecular Genetics, 2002

The sounds of silence have forever been broken as genetics and genomics approaches in human and m... more The sounds of silence have forever been broken as genetics and genomics approaches in human and model organisms have provided a powerful and rapid entry into gene discovery in the auditory system. An understanding of the complexities and beauty of the biological process of hearing itself is unfolding as genes underlying hereditary hearing impairment are identified. Genes involved in modifying hearing are also being found, and will be critical to a full comprehension of genotype-phenotype relationships. Investigations in the auditory system will provide important insight into how the nervous system decodes molecular information. Deafness represents a common sensory disorder that can interfere dramatically in the acquisition of speech and language in children, and in the quality of life for a growing aged population. As newborn screening for hearing impairment is being implemented in many birth hospitals, the prospects for precise clinical diagnosis, appropriate genetic counseling and proper medical management for auditory disorders has never been at a more exciting crossroad.

Cancer Genetics and Cytogenetics, 1997

Rearrangement of 7q represents one of the major cytogenetic subgroups in uterine leiomyomata, the... more Rearrangement of 7q represents one of the major cytogenetic subgroups in uterine leiomyomata, the most common tumors arising in females. Herein we report cytogenetic analysis on a series of 22 cases of uterine leiomyomata with 7q abnormalities, and describe observations regarding tumor size and maintenance of the tumor cells in culture. We discuss the frequent finding of mosaic tumors containing both cells with the 7q rearrangement and karyotypically normal cells. Clonality studies of three mosaic cases reveal nonrandom X chromosome inactivation substantiating prior findings suggesting the secondary nature of chromosome aberrations in these tumors. Genes mapped in 7q22 and those identified in the pathobiology of other uterine leiomyomata subgroups are discussed in addition to a perspective on the role of the 7q22 leiomyomata gene.

American Journal of Medical Genetics, 2004

Acta geneticae medicae et gemellologiae: twin research, 1981

Taste threshold for phenylthiocarbamide (PTC) was measured in 393 offspring from the families of ... more Taste threshold for phenylthiocarbamide (PTC) was measured in 393 offspring from the families of 85 monozygotic (MZ) twin pairs. PTC scores were bimodally distributed with modes at one and eight and the antimode at five. Because of the non-normality of the distribution, a jackknife procedure was used to obtain 95% confidence intervals for the estimates of genetic, maternal, and environmental parameters. Analyses which assumed no epistasis and which included additive genetic effects revealed that 37.9% of the observed variation in PTC threshold was due to additive genetic effects, 16.6% was due to dominance effects, 14.2% was due to maternal effects, 13.7% was due to a common sibship environment, and 17.6% was due to random environmental effects, yielding a broad sense heritability of 0.55 for the threshold ability to taste PTC. Analyses which did not include additive genetic effects revealed 26.6% of the observed variance was due to dominance effects, 23.6% to maternal effects, and ...

Cancer Genetics and Cytogenetics, 1989

Bulletin Du Cancer, Dec 5, 1999

Les leiomyomes uterins sont les tumeurs les plus frequentes de la femme en âge de procreer. Bien ... more Les leiomyomes uterins sont les tumeurs les plus frequentes de la femme en âge de procreer. Bien que benignes, elles sont responsables d’un important probleme de sante publique et representent notamment la principale indication des hysterectomies. Les facteurs biologiques responsables de leur progression sont encore mal connus. Les resultats des etudes genetiques menees au cours de ces dernieres annees ont apporte de nouveaux elements concernant la pathobiologie de ces tumeurs. Les analyses cytogenetiques ont montre que les rearrangements les plus frequents impliquaient les chromosomes 6, 7, 12 et 14, ce qui a permis la mise en evidence de l’alteration et de la deregulation des genes HMGIC et HMGIY, respectivement localises en 12q15 et 6p21. Ces deux genes codent pour des proteines non histones d’architecture de l’ADN, de la famille des proteines du groupe de haute mobilite, et sont rearranges dans de nombreuses autres tumeurs benignes. Le rearrangement des genes HMGIC et HMGIY, ainsi que des genes non encore identifies presents aux sites d’autres rearrangements chromosomiques observes dans les leiomyomes uterins pourrait n’etre qu’un evenement secondaire dans la genese de ces tumeurs. En effet, les resultats des etudes chez les jumeaux, l’association de leiomyomes a d’autres symptomes decrite dans certains syndromes hereditaires, ainsi que l’existence de predispositions familiales et ethniques suggerent une base genetique pour le developpement de ces tumeurs.

The American Journal of Human Genetics

ABSTRACT

Springer Handbook of Auditory Research

Thus far, cytogenetic analysis has been used in only a small number of studies of patients with h... more Thus far, cytogenetic analysis has been used in only a small number of studies of patients with hearing loss. This reflects the fact that chromosomal studies are costly, and karyotypic anomalies are likely to account for a low percentage of cases. In addition, only a relatively small proportion of molecular biologists have any expertise with cytogenetic techniques. Appropriately, cytogenetics is not the first technique to be considered when evaluating a child with nonsyndromic deafness. However, cytogenetic testing could be valuable in cases of deafness of unknown etiology, particulary if there were accompanying congenital anomalies, or a family history of multiple spontaneous abortions. When all other causes of deafness, either genetic or acquired, are eliminated, cytogenetics could be used to determine if the hearing loss may be due to a chromosome rearrangement, such as a balanced translocation. The advantage would be that, if such a chromosome rearrangement were found, it would immediately suggest the location of the deafness gene.

Oxford Handbooks Online, 2010

Molecular Cell Biology Research Communications, 1999

Histone deacetylases (HDACs) are enzymes that play a pivotal role in transcription, differentiati... more Histone deacetylases (HDACs) are enzymes that play a pivotal role in transcription, differentiation, and cell cycle progression. We previously cloned human HDAC3 cDNA and showed that its transfection into THP-1 cells results in G2/M cell cycle accumulation. Using bioinformatic screening and PCR, we have now cloned the murine Hdac3 cDNA, which encodes a 428-amino-acid protein with near complete identity to its human ortholog. To establish a link to a potential disease locus, we performed PCR-based chromosomal mapping for the mHdac3 gene and chromosomal fluorescence in situ hybridization (FISH) for the human gene. mHdac3 localizes to chromosome 18 and human HDAC3 gene localizes to a syntenic region in chromosome 5 at band q31.3-q32 telomeric to the cytokine gene cluster. Transfection of mHdac3 into HeLa cells led to accumulation in G2/M. Our results suggest a cell cycle function for murine Hdac3, reflecting the complex regulatory roles of this gene family.