Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

Abstract:

:A case of a 46,XYp- phenotypic female provided an opportunity to evaluate both sexual and somatic determinants for the Y chromosome. The patient had multiple stigmata of Turner syndrome, but normal stature. Laparotomy revealed a normal uterus and tubes, with 1.5 cm undifferentiated gonads. Serological tests for H-Y antigen (ostensibly the product of Y-chromosomal testis-determining genes) indicated absence of the H-Y+ phenotype normally associated with the intact Y chromosome. We conclude that genes exist on the short arm of the human Y chromosome which both suppress some of the somatic stigmata of Turner syndrome and determine normal expression of H-Y antigen and testicular differentiation of the primitive gonad. Our data are consistent with the view that H-Y genes comprise a family of testis-determinants, and that loss of a critical moiety is inconsistent with normal development of the male gonad.

journal_name

Am J Hum Genet

authors

Rosenfeld RG,Luzzatti L,Hintz RL,Miller OJ,Koo GC,Wachtel SS

subject

Has Abstract

pub_date

1979-07-01 00:00:00

pages

458-68

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

31

pub_type

杂志文章
  • Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes.

    abstract::Linkage is a phenomenon that correlates the genotypes of loci, rather than the phenotypes of one locus to the genotypes of another. It is therefore necessary to convert the observed trait phenotypes into trait-locus genotypes, which can then be analyzed for coinheritance with marker-locus genotypes. However, if the mo...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/302797

    authors: Göring HH,Terwilliger JD

    更新日期:2000-03-01 00:00:00

  • Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

    abstract::Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is precisely controlled to guarantee efficient compaction of the genome and proper chromosomal segregation during cell division and to accomplish DNA replication, transcription, and repair. Due to the important structural and regulatory rol...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2019.07.007

    authors: Flex E,Martinelli S,Van Dijck A,Ciolfi A,Cecchetti S,Coluzzi E,Pannone L,Andreoli C,Radio FC,Pizzi S,Carpentieri G,Bruselles A,Catanzaro G,Pedace L,Miele E,Carcarino E,Ge X,Chijiwa C,Lewis MES,Meuwissen M,Kenis S

    更新日期:2019-09-05 00:00:00

  • How rapidly does the human mitochondrial genome evolve?

    abstract::The results of an empirical nucleotide-sequencing approach indicate that the evolution of the human mitochondrial noncoding D-loop is both more rapid and more complex than is revealed by standard phylogenetic approaches. The nucleotide sequence of the D-loop region of the mitochondrial genome was determined for 45 mem...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Howell N,Kubacka I,Mackey DA

    更新日期:1996-09-01 00:00:00

  • Importance sampling. I. Computing multimodel p values in linkage analysis.

    abstract::In linkage analysis, when the lod score is maximized over multiple genetic models, standard asymptotic approximation of the significance level does not apply. Monte Carlo methods can be used to estimate the p value, but procedures currently used are extremely inefficient. We propose a Monte Carlo procedure based on th...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Kong A,Frigge M,Irwin M,Cox N

    更新日期:1992-12-01 00:00:00

  • GDF5 is a second locus for multiple-synostosis syndrome.

    abstract::Multiple-synostosis syndrome is an autosomal dominant disorder characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism. Heterozygosity for functional null mutations in the NOGGIN gene has been shown to be responsible for the disorder. However, in a cohort of six proband...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/503204

    authors: Dawson K,Seeman P,Sebald E,King L,Edwards M,Williams J 3rd,Mundlos S,Krakow D

    更新日期:2006-04-01 00:00:00

  • Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

    abstract::Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder. Approximately 80% of patients with MLIV are of Ashkenazi Jewish (AJ) descent, and two mutations, IVS3-2A-->G and 511del6434, account for >95% of the mutant alleles in this populati...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/339519

    authors: Edelmann L,Dong J,Desnick RJ,Kornreich R

    更新日期:2002-04-01 00:00:00

  • Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

    abstract::We have previously demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identified pathogenetic mutations in several families. Mutations in DDEB identified thus far are glycine substit...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Christiano AM,Anton-Lamprecht I,Amano S,Ebschner U,Burgeson RE,Uitto J

    更新日期:1996-04-01 00:00:00

  • Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation.

    abstract::A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and n...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Witkop CJ Jr,White JG,King RA,Dahl MV,Young WG,Sauk JJ Jr

    更新日期:1979-07-01 00:00:00

  • Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects.

    abstract::Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of thre...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Board PG,Chapple R,Coggan M

    更新日期:1988-05-01 00:00:00

  • Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

    abstract::A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound heterozygote, we have det...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ding JH,Yang BZ,Bao Y,Roe CR,Chen YT

    更新日期:1992-01-01 00:00:00

  • Genetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree.

    abstract::Multipoint linkage analysis is a powerful method for mapping a rare disease gene on the human gene map despite limited genotype and pedigree data. However, there is no standard procedure for determining a confidence interval for gene location by using multipoint linkage analysis. A genetic counselor needs to know the ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Suthers GK,Wilson SR

    更新日期:1990-07-01 00:00:00

  • Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

    abstract::To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, we determined allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene. The loci are highly polymorphic, with predicted het...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Clemens PR,Fenwick RG,Chamberlain JS,Gibbs RA,de Andrade M,Chakraborty R,Caskey CT

    更新日期:1991-11-01 00:00:00

  • Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism.

    abstract::The debrisoquine/sparteine polymorphism is associated with a clinically important genetic deficiency of oxidative drug metabolism. From 5% to 10% of Caucasians designated as poor metabolizers (PMs) of the debrisoquine/sparteine polymorphism have a severely impaired capacity to metabolize more than 25 therapeutically u...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Gaedigk A,Blum M,Gaedigk R,Eichelbaum M,Meyer UA

    更新日期:1991-05-01 00:00:00

  • Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

    abstract::Fibroblasts from a man with a mild form of osteogenesis imperfecta (OI) and from his son with perinatal lethal OI (OI type II) produced normal and abnormal type I procollagen molecules. The abnormal molecules synthesized by both cell strains contained one or two pro alpha 1(I) chains in which the glycine at position 5...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Wallis GA,Starman BJ,Zinn AB,Byers PH

    更新日期:1990-06-01 00:00:00

  • BRCA2 T2722R is a deleterious allele that causes exon skipping.

    abstract::Patients with a strong family history of breast cancer are often counseled to receive genetic screening for BRCA1 and BRCA2 mutations, the strongest known predictors of breast cancer. A major limitation of genetic testing is the number of inconclusive results due to unclassified BRCA1 and BRCA2 sequence variants. Many...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1086/342192

    authors: Fackenthal JD,Cartegni L,Krainer AR,Olopade OI

    更新日期:2002-09-01 00:00:00

  • Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

    abstract::Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.05.023

    authors: Saadi I,Alkuraya FS,Gisselbrecht SS,Goessling W,Cavallesco R,Turbe-Doan A,Petrin AL,Harris J,Siddiqui U,Grix AW Jr,Hove HD,Leboulch P,Glover TW,Morton CC,Richieri-Costa A,Murray JC,Erickson RP,Maas RL

    更新日期:2011-07-15 00:00:00

  • Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

    abstract::Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Nav) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in i...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2020.10.017

    authors: Fry AE,Marra C,Derrick AV,Pickrell WO,Higgins AT,Te Water Naude J,McClatchey MA,Davies SJ,Metcalfe KA,Tan HJ,Mohanraj R,Avula S,Williams D,Brady LI,Mesterman R,Tarnopolsky MA,Zhang Y,Yang Y,Wang X,Genomics England R

    更新日期:2021-01-07 00:00:00

  • Apolipoprotein E polymorphism influences postprandial retinyl palmitate but not triglyceride concentrations.

    abstract::To quantify the effect of the apolipoprotein (apo) E polymorphism on the magnitude of postprandial lipemia, we have defined its role in determining the response to a single high-fat meal in a large sample of (N = 474) individuals taking part in the biethnic Atherosclerosis Risk in Communities Study. The profile of pos...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Boerwinkle E,Brown S,Sharrett AR,Heiss G,Patsch W

    更新日期:1994-02-01 00:00:00

  • Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

    abstract::We used whole-exome sequencing to study three individuals with a distinct condition characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. Affected individuals carried homozygous missense mutations in IMPAD1, the gene coding for gPAPP, ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2011.04.002

    authors: Vissers LE,Lausch E,Unger S,Campos-Xavier AB,Gilissen C,Rossi A,Del Rosario M,Venselaar H,Knoll U,Nampoothiri S,Nair M,Spranger J,Brunner HG,Bonafé L,Veltman JA,Zabel B,Superti-Furga A

    更新日期:2011-05-13 00:00:00

  • BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

    abstract::Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in thes...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.07.004

    authors: Wooderchak-Donahue WL,McDonald J,O'Fallon B,Upton PD,Li W,Roman BL,Young S,Plant P,Fülöp GT,Langa C,Morrell NW,Botella LM,Bernabeu C,Stevenson DA,Runo JR,Bayrak-Toydemir P

    更新日期:2013-09-05 00:00:00

  • WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels.

    abstract::Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test for association with low HDL-C by using a regional-tag SNP strategy. We identified one SNP, rs2548861, in the WW-domain-containing oxidoreductase (WWOX) gene ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2008.07.002

    authors: Lee JC,Weissglas-Volkov D,Kyttälä M,Dastani Z,Cantor RM,Sobel EM,Plaisier CL,Engert JC,van Greevenbroek MM,Kane JP,Malloy MJ,Pullinger CR,Huertas-Vazquez A,Aguilar-Salinas CA,Tusie-Luna T,de Bruin TW,Aouizerat BE,van de

    更新日期:2008-08-01 00:00:00

  • Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

    abstract::The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks (DSBs). Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2009.04.010

    authors: Waltes R,Kalb R,Gatei M,Kijas AW,Stumm M,Sobeck A,Wieland B,Varon R,Lerenthal Y,Lavin MF,Schindler D,Dörk T

    更新日期:2009-05-01 00:00:00

  • Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

    abstract::Many individuals with abnormalities of mitochondrial respiratory chain complex III remain genetically undefined. Here, we report mutations (c.288G>T [p.Trp96Cys] and c.643C>T [p.Leu215Phe]) in CYC1, encoding the cytochrome c1 subunit of complex III, in two unrelated children presenting with recurrent episodes of ketoa...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2013.06.015

    authors: Gaignard P,Menezes M,Schiff M,Bayot A,Rak M,Ogier de Baulny H,Su CH,Gilleron M,Lombes A,Abida H,Tzagoloff A,Riley L,Cooper ST,Mina K,Sivadorai P,Davis MR,Allcock RJ,Kresoje N,Laing NG,Thorburn DR,Slama A,Christo

    更新日期:2013-08-08 00:00:00

  • A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

    abstract::Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low-density-lipoprotein (LDL) receptor. Here we characterize an LDL-receptor founder mutation that is associated with a distinct LDL-receptor haplotype and is responsible for FH in 35% of 71 Jewish-Ashkenazi FH families in I...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Meiner V,Landsberger D,Berkman N,Reshef A,Segal P,Seftel HC,van der Westhuyzen DR,Jeenah MS,Coetzee GA,Leitersdorf E

    更新日期:1991-08-01 00:00:00

  • A duplicated region is responsible for the poly(ADP-ribose) polymerase polymorphism, on chromosome 13, associated with a predisposition to cancer.

    abstract::The poly(ADP-ribose) polymerase (PADPRP) gene (13q33-qter) depicts a two-allele (A/B) polymorphism. In the noncancer population, the frequency of the B allele is higher among blacks than among whites. Since the incidence of multiple myeloma and prostate and lung cancer is higher in the U.S. black population, we have a...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Lyn D,Cherney BW,Lalande M,Berenson JR,Lichtenstein A,Lupold S,Bhatia KG,Smulson M

    更新日期:1993-01-01 00:00:00

  • DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.

    abstract::Down syndrome (DS) is the most common cause of mental retardation. Many neural phenotypes are shared between DS individuals and DS mouse models; however, the common underlying molecular pathogenetic mechanisms remain unclear. Using a transchromosomic model of DS, we show that a 30%-60% reduced expression of Nrsf/Rest ...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2008.08.012

    authors: Canzonetta C,Mulligan C,Deutsch S,Ruf S,O'Doherty A,Lyle R,Borel C,Lin-Marq N,Delom F,Groet J,Schnappauf F,De Vita S,Averill S,Priestley JV,Martin JE,Shipley J,Denyer G,Epstein CJ,Fillat C,Estivill X,Tybulewicz VL

    更新日期:2008-09-01 00:00:00

  • Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

    abstract::Ca2+ signaling is vital for various cellular processes including synaptic vesicle exocytosis, muscle contraction, regulation of secretion, gene transcription, and cellular proliferation. The endoplasmic reticulum (ER) is the largest intracellular Ca2+ store, and dysregulation of ER Ca2+ signaling and homeostasis contr...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2018.09.014

    authors: Morimoto M,Waller-Evans H,Ammous Z,Song X,Strauss KA,Pehlivan D,Gonzaga-Jauregui C,Puffenberger EG,Holst CR,Karaca E,Brigatti KW,Maguire E,Coban-Akdemir ZH,Amagata A,Lau CC,Chepa-Lotrea X,Macnamara E,Tos T,Isikay S,

    更新日期:2018-11-01 00:00:00

  • Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

    abstract::Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Ryynänen M,Knowlton RG,Uitto J

    更新日期:1991-11-01 00:00:00

  • TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

    abstract::Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large num...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:10.1016/j.ajhg.2015.12.011

    authors: Jansen JC,Timal S,van Scherpenzeel M,Michelakakis H,Vicogne D,Ashikov A,Moraitou M,Hoischen A,Huijben K,Steenbergen G,van den Boogert MA,Porta F,Calvo PL,Mavrikou M,Cenacchi G,van den Bogaart G,Salomon J,Holleboom AG,

    更新日期:2016-02-04 00:00:00

  • Model-free linkage analysis using likelihoods.

    abstract::Misspecification of transmission model parameters can produce artifactually negative lod scores at small recombination fractions and in multipoint analysis. To avoid this problem, we have tried to devise a test that aims to detect a genetic effect at a particular locus, rather than attempting to estimate the map posit...

    journal_title:American journal of human genetics

    pub_type: 杂志文章

    doi:

    authors: Curtis D,Sham PC

    更新日期:1995-09-01 00:00:00